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

4 papers

NM_007294.4

p.S1007S

c.3021A>G

Surrounding Variants

1 paper

NM_007294.4

p.S1007insFs

c.3020_3021insC

1 paper

NM_007294.4

p.S1007insFs

c.3020_3021insCT

1 paper

NM_007294.4

p.S1007fs

c.3019_3020fs

3 papers

NM_007294.4

p.S1007delFs

c.3020delG

1 paper

NM_007294.4

p.M1008fs

c.3022_3023fs

1 paper

NM_007294.4

p.S1007L

c.3020C>T

15 papers

NM_007294.4

p.S1007*

c.3020C>G

14 papers

NM_007294.4

p.S1007*

c.3020C>A

2 papers

NM_007294.4

p.H1006delFs

c.3018delA

2 papers

NM_007294.4

p.M1008L

c.3022A>T

46 papers

NM_007294.4

p.M1008V

c.3022A>G

4 papers

NM_007294.4

p.M1008L

c.3022A>C