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.S288G

c.862A>G

Surrounding Variants

2 papers

NM_007294.4

p.S288fs

c.862_863fs

1 paper

NM_007294.4

p.S288C

c.862A>T

2 papers

NM_007294.4

p.S288R

c.862A>C

1 paper

NM_007294.4

p.S288_S289insC

c.862_866ins3

1 paper

NM_007294.4

p.S288I

c.863G>T

1 paper

NM_007294.4

p.S288insFs

c.862_863insA

2 papers

NM_007294.4

p.S288N

c.863G>A

2 papers

NM_007294.4

p.S288delFs

c.862delT

2 papers

NM_007294.4

p.N287K

c.861C>G

2 papers

NM_007294.4

p.N287K

c.861C>A

2 papers

NM_007294.4

p.S288R

c.864C>G

2 papers

NM_007294.4

p.S288R

c.864C>A