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

2 papers

NM_007294.4

p.P1585_E1586insA

c.4753_4757ins3

Surrounding Variants

4 papers

NM_007294.4

p.P1585fs

c.4753_4754fs

3 papers

NM_007294.4

p.P1585L

c.4754C>T

2 papers

NM_007294.4

p.A1584A

c.4752C>T

5 papers

NM_007294.4

p.A1584A

c.4752C>G

1 paper

NM_007294.4

p.P1585R

c.4754C>G

3 papers

NM_007294.4

p.A1584V

c.4751C>T

2 papers

NM_007294.4

p.A1584delFs

c.4750delC

5 papers

NM_007294.4

p.R1583_A1584delFs

c.4749_4750delCT

1 paper

NM_007294.4

p.P1585P

c.4755A>G

1 paper

NM_007294.4

p.P1585insFs

c.4754dupC

1 paper

NM_007294.4

p.A1584delFs

c.4751delG

15 papers

NM_007294.4

p.A1584S

c.4750G>T