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

383 papers

NM_007294.4

p.P871L

c.2612C>T

NM_007297.4

p.P824L

c.2471C>T

Surrounding Variants

6 papers

NM_007294.4

p.P871Fs

c.2612delinsTTFs

3 papers

NM_007294.4

p.P871Fs

c.2612delinsTTTFs

14 papers

NM_007294.4

p.P871R

c.2612C>G

15 papers

NM_007294.4

p.P871insFs

c.2612_2613insT

10 papers

NM_007294.4

p.P871Q

c.2612C>A

1 paper

NM_007294.4

p.A870_P871delins

c.2608_2612delinsCCTCT

1 paper

NM_007294.4

p.F869_P871delFs

c.2605_2611del7

1 paper

NM_007294.4

p.P871P

c.2613G>T

1 paper

NM_007294.4

p.P871_F872insFs

c.2613_2614insT

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