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

41 papers

NM_007294.4

p.F1662_M1663Splc

c.4986+6T>C

Surrounding Variants

31 papers

NM_007294.4

p.F1662_M1663Splc

c.4986+6T>G

11 papers

NM_007294.4

p.F1662_M1663Splc

c.4986+5G>T

1 paper

NM_007294.4

p.F1662_M1663Splc

c.4986+7G>T

2 papers

NM_007294.4

p.F1662_M1663Splc

c.4986+5G>C

1 paper

NM_007294.4

p.F1662_M1663Splc

c.4986+7G>C

22 papers

NM_007294.4

p.F1662_M1663Splc

c.4986+5G>A

1 paper

NM_007294.4

p.F1662_M1663Splc

c.4986+7G>A

11 papers

NM_007294.4

p.F1662_M1663Splc

c.4986+4A>T

11 papers

NM_007294.4

p.F1662_M1663Splc

c.4986+4A>G

5 papers

NM_007294.4

p.F1662_M1663Splc

c.4986+4A>C

3 papers

NM_007294.4

p.F1662_M1663Splc

c.4986+3G>T

27 papers

NM_007294.4

p.F1662_M1663Splc

c.4986+3G>C