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.C305S

c.914G>C

Surrounding Variants

6 papers

NM_007294.4

p.C305F

c.914G>T

2 papers

NM_007294.4

p.C305Y

c.914G>A

1 paper

NM_007294.4

p.C305W

c.915T>G

1 paper

NM_007294.4

p.C305R

c.913T>C

4 papers

NM_007294.4

p.C305*

c.915T>A

2 papers

NM_007294.4

p.C305S

c.913T>A

1 paper

NM_007294.4

p.C305fs

c.913_914fs

1 paper

NM_007294.4

p.N306fs

c.916_917fs

2 papers

NM_007294.4

p.F304F

c.912C>T

1 paper

NM_007294.4

p.F304L

c.912C>G

1 paper

NM_007294.4

p.F304insFs

c.911dupT

3 papers

NM_007294.4

p.F304fs

c.910_911fs