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.P871_F872insFs

c.2613_2614insT

Surrounding Variants

1 paper

NM_007294.4

p.P871P

c.2613G>T

1 paper

NM_007294.4

p.P871insFs

c.2612_2613insC

9 papers

NM_007294.4

p.P871fs

c.2611_2612fs

2 papers

NM_007294.4

p.P871P

c.2613G>C

10 papers

NM_007294.4

p.P871P

c.2613G>A

1 paper

NM_007294.4

p.P871Fs

c.2612_2613delinsTTTFs

13 papers

NM_007294.4

p.P871delFs

c.2611_2612delGG

1 paper

NM_007294.4

p.F872_S873insC

c.2614_2618ins3

3 papers

NM_007294.4

p.F872L

c.2614T>C

4 papers

NM_007294.4

p.F872fs

c.2614_2615fs

383 papers

NM_007294.4

p.P871L

c.2612C>T

NM_007297.4

p.P824L

c.2471C>T

6 papers

NM_007294.4

p.P871Fs

c.2612delinsTTFs