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.L752L

c.2256A>G

Surrounding Variants

1 paper

NM_007294.4

p.L752F

c.2256A>T

2 papers

NM_007294.4

p.L752F

c.2256A>C

2 papers

NM_007294.4

p.L752_S753insFs

c.2256_2257insTA

2 papers

NM_007294.4

p.L752*

c.2255T>G

3 papers

NM_007294.4

p.L752S

c.2255T>C

2 papers

NM_007294.4

p.L752*

c.2255T>A

12 papers

NM_007294.4

p.M751delFs

c.2252_2253delCA

1 paper

NM_007294.4

p.M751_L752delFs

c.2251_2254del4

1 paper

NM_007294.4

p.S753fs

c.2257_2258fs

2 papers

NM_007294.4

p.S753R

c.2257A>C

1 paper

NM_007294.4

p.L752insFs

c.2255_2256dupTA

3 papers

NM_007294.4

p.L752V

c.2254T>G