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

14 papers

NM_007294.4

p.E1066*

c.3196G>T

Surrounding Variants

2 papers

NM_007294.4

p.E1066K

c.3196G>A

1 paper

NM_007294.4

p.S1064_D1065delFs

c.3192_3195del4

2 papers

NM_007294.4

p.D1065fs

c.3193_3194fs

1 paper

NM_007294.4

p.D1065E

c.3195T>G

1 paper

NM_007294.4

p.D1065E

c.3195T>A

1 paper

NM_007294.4

p.S1064_D1065delFs

c.3190_3193del4

2 papers

NM_007294.4

p.D1065V

c.3194A>T

11 papers

NM_007294.4

p.D1065insFs

c.3193dupG

5 papers

NM_007294.4

p.D1065fs

c.3193_3194fs

1 paper

NM_007294.4

p.D1065Y

c.3193G>T

3 papers

NM_007294.4

p.D1065N

c.3193G>A

3 papers

NM_007294.4

p.S1063_S1064delFs

c.3189_3192del4