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

1 paper

NM_007294.4

p.D369D

c.1107T>C

Surrounding Variants

1 paper

NM_007294.4

p.D369_V370insFs

c.1107_1108insCT

4 papers

NM_007294.4

p.D369fs

c.1105_1106fs

10 papers

NM_007294.4

p.D369E

c.1107T>G

4 papers

NM_007294.4

p.D369E

c.1107T>A

3 papers

NM_007294.4

p.V370F

c.1108G>T

1 paper

NM_007294.4

p.V370L

c.1108G>C

6 papers

NM_007294.4

p.V370I

c.1108G>A

1 paper

NM_007294.4

p.D369delFs

c.1107delA

1 paper

NM_007294.4

p.D369V

c.1106A>T

3 papers

NM_007294.4

p.D369G

c.1106A>G

1 paper

NM_007294.4

p.D369A

c.1106A>C

1 paper

NM_007294.4

p.D369insFs

c.1105dupG