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

3 papers

NM_007294.4

p.D1156delFs

c.3468delA

Surrounding Variants

2 papers

NM_007294.4

p.G1157C

c.3469G>T

1 paper

NM_007294.4

p.G1157S

c.3469G>A

1 paper

NM_007294.4

p.D1156D

c.3468T>C

1 paper

NM_007294.4

p.D1152_D1155del4

c.3454_3464del12

1 paper

NM_007294.4

p.G1157V

c.3470G>T

1 paper

NM_007294.4

p.G1157A

c.3470G>C

1 paper

NM_007294.4

p.G1157D

c.3470G>A

2 papers

NM_007294.4

p.D1156V

c.3467A>T

3 papers

NM_007294.4

p.D1156G

c.3467A>G

1 paper

NM_007294.4

p.D1156A

c.3467A>C

2 papers

NM_007294.4

p.D1156fs

c.3466_3467fs

17 papers

NM_007294.4

p.E1158*

c.3472G>T