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

2 papers

NM_007294.4

p.A225A

c.675T>G

Surrounding Variants

1 paper

NM_007294.4

p.A225delFs

c.674delG

2 papers

NM_007294.4

p.C226G

c.676T>G

3 papers

NM_007294.4

p.C226S

c.676T>A

13 papers

NM_007294.4

p.C226fs

c.676_677fs

1 paper

NM_007294.4

p.A225V

c.674C>T

1 paper

NM_007294.4

p.A225G

c.674C>G

1 paper

NM_007294.4

p.A225insFs

c.674_675ins16

2 papers

NM_007294.4

p.A225D

c.674C>A

2 papers

NM_007294.4

p.C226F

c.677G>T

1 paper

NM_007294.4

p.C226S

c.677G>C

1 paper

NM_007294.4

p.A225P

c.673G>C

2 papers

NM_007294.4

p.A225T

c.673G>A