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.S1064S

c.3192T>C

Surrounding Variants

1 paper

NM_007294.4

p.S1064fs

c.3190_3191fs

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

2 papers

NM_007294.4

p.T1051_S1064del0

c.3151_3192del42

7 papers

NM_007294.4

p.S1064fs

c.3190_3191fs

3 papers

NM_007294.4

p.S1064C

c.3190A>T

2 papers

NM_007294.4

p.D1065V

c.3194A>T

1 paper

NM_007294.4

p.S1064G

c.3190A>G

2 papers

NM_007294.4

p.S1064R

c.3190A>C

11 papers

NM_007294.4

p.D1065insFs

c.3193dupG