Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007294.4

p.E1210delFs

c.3628delC

Surrounding Variants

1 paper

NM_007294.4

p.E1210V

c.3629A>T

7 papers

NM_007294.4

p.E1210G

c.3629A>G

2 papers

NM_007294.4

p.E1210D

c.3630G>T

1 paper

NM_007294.4

p.E1210_S1211insFs

c.3630_3631insT

22 papers

NM_007294.4

p.E1210fs

c.3628_3629fs

5 papers

NM_007294.4

p.E1210_S1211insCT

c.3628_3632ins6

92 papers

NM_007294.4

p.L1209insFs

c.3627dupA

1 paper

NM_007294.4

p.E1210insFs

c.3629dupA

3 papers

NM_007294.4

p.E1210Q

c.3628G>C

2 papers

NM_007294.4

p.E1210D

c.3630G>C

1 paper

NM_007294.4

p.E1210E

c.3630G>A

1 paper

NM_007294.4

p.E1210K

c.3628G>A