BARD1 G623E [nucleoplasm]

Stable Identifier
R-HSA-9699135
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
BARD1 Gly623Glu
BARD1 G623E [nucleoplasm] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
26350354 Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks

Parvinsmith, MR, Ceravolo, A, Banerjee, T, Gillespie, J, Fields, S, Parvin, JD, Toland, AE, Lee, C, Starita, LM

Hum. Mutat. 2015
External Reference Information
External Reference
Gene Names
BARD1
Chain
chain:1-777
Other Identifiers
11756612_a_at
16907960
1801_at
205345_PM_at
205345_at
227545_PM_at
227545_at
242655_PM_at
242655_at
243156_PM_at
243156_at
2598096
2598098
2598100
2598101
2598102
2598104
2598107
2598108
2598109
2598110
2598115
2598116
2598117
2598119
2598120
2598123
2598124
2598126
2598128
2598129
2598130
46907_at
47114_at
54200_at
580
8058695
A_23_P67771
GE532417
GE59408
GE87967
GO:0000151
GO:0000152
GO:0000278
GO:0001894
GO:0003723
GO:0003824
GO:0004842
GO:0005515
GO:0005634
GO:0005654
GO:0005737
GO:0006260
GO:0006281
GO:0006282
GO:0006310
GO:0006886
GO:0006913
GO:0006974
GO:0012501
GO:0016071
GO:0016567
GO:0016607
GO:0016740
GO:0019900
GO:0023052
GO:0030163
GO:0031436
GO:0031441
GO:0035825
GO:0036211
GO:0036464
GO:0042325
GO:0042803
GO:0043065
GO:0043066
GO:0043226
GO:0044818
GO:0045732
GO:0045786
GO:0046826
GO:0046872
GO:0046982
GO:0051726
GO:0070531
GO:0070532
GO:0070533
GO:0071479
GO:0085020
GO:0110025
GO:0140096
GO:2000001
HMNXSV003025068
Hs.38894.0.A1_3p_at
Hs.54613.0.A1_3p_at
Hs.86617.0.A1_3p_at
ILMN_1872456
ILMN_2074258
PH_hs_0003005
PH_hs_0003556
TC02002745.hg
TC02004804.hg
U76638_at
g4557348_3p_at
Participates
Other forms of this molecule
Modified Residues
Name
glycine 623 replaced with L-glutamic acid
Coordinate
623
PsiMod
A protein modification that effectively removes or replaces an glycine.
A protein modification that effectively converts a source amino acid residue to an L-glutamic acid.
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
hereditary breast ovarian cancer syndrome DOID:5683 BRCA1- and BRCA2-associated hereditary breast and ovarian cancer
Interactors (27)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P38398 BRCA1  20 0.958 20
 UniProt:O95751 LDOC1      0.781 7
 UniProt:Q08379 GOLGA2  3 0.718 6
 UniProt:P33240 CSTF2  1 0.702 8
 ChEBI:61151 PAR      0.65 9
 UniProt:Q05048 CSTF1  1 0.581 4
 UniProt:O95453 PARN  1 0.577 4
 ChEBI:16864 ADP-RIBOSE      0.558 2
 UniProt:O75031 HSF2B      0.556 3
 UniProt:Q8NHQ1 CEP70  1 0.556 3
 UniProt:Q5JR59-3 MTUS2      0.556 3
 UniProt:Q15276 RABEP1  1 0.556 3
 IntAct:EBI-16435328 CCSB ORF ID      0.556 3
 UniProt:Q8IZU0 FAM9B      0.556 3
 UniProt:Q6A162 KRT40  1 0.556 3
 UniProt:Q9BVG8-5 KIFC3      0.556 3
 UniProt:Q13422-7 IKZF1      0.556 3
 UniProt:Q8N720 ZNF655  1 0.556 3
 UniProt:O00471 EXOC5  2 0.556 3
 UniProt:Q9Y2T1 AXIN2  4 0.556 3
 UniProt:Q13077 TRAF1  3 0.556 3
 UniProt:P38398-1 BRCA1      0.524 3
 UniProt:Q9P2H0 CE126      0.508 2
 UniProt:O14776 TCERG1  1 0.508 2
 UniProt:O95251 KAT7  1 0.508 2
 UniProt:Q12873 CHD3  2 0.508 2
 UniProt:Q9Y2X7 GIT1  2 0.508 2
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