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.L814I

c.2440C>A

Surrounding Variants

1 paper

NM_007294.4

p.L814L

c.2440C>T

1 paper

NM_007294.4

p.K812_G813delFs

c.2436_2439del4

1 paper

NM_007294.4

p.K812_G813del2

c.2434_2438del6

4 papers

NM_007294.4

p.L814fs

c.2440_2441fs

1 paper

NM_007294.4

p.L814P

c.2441T>C

1 paper

NM_007294.4

p.L814Q

c.2441T>A

2 papers

NM_007294.4

p.L814delFs

c.2440delG

1 paper

NM_007294.4

p.G813_L814insFs

c.2439_2440insT

5 papers

NM_007294.4

p.G813insFs

c.2438dupG

2 papers

NM_007294.4

p.G813fs

c.2437_2438fs

1 paper

NM_007294.4

p.G813delFs

c.2438delC

1 paper

NM_007294.4

p.G813delFs

c.2437_2438delCC