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.F1296S

c.3887T>C

Surrounding Variants

2 papers

NM_007294.4

p.F1296C

c.3887T>G

4 papers

NM_007294.4

p.A1293_L1295insFs

c.3878_3885dup8

1 paper

NM_007294.4

p.F1296_S1297insA

c.3886_3890ins3

1 paper

NM_007294.4

p.F1296L

c.3888T>G

1 paper

NM_007294.4

p.F1296L

c.3886T>C

1 paper

NM_007294.4

p.F1296L

c.3888T>A

2 papers

NM_007294.4

p.F1296fs

c.3886_3887fs

1 paper

NM_007294.4

p.L1295delFs

c.3885delC

2 papers

NM_007294.4

p.S1294_L1295delFs

c.3882_3885del4

1 paper

NM_007294.4

p.S1297_S1298insCC

c.3889_3893ins6

5 papers

NM_007294.4

p.S1297P

c.3889T>C

3 papers

NM_007294.4

p.S1297T

c.3889T>A