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.H1805Q

c.5415C>A

Surrounding Variants

3 papers

NM_007294.4

p.H1805H

c.5415C>T

1 paper

NM_007294.4

p.H1805Q

c.5415C>G

1 paper

NM_007294.4

p.G1803_H1805delFs

c.5407_5414del8

5 papers

NM_007294.4

p.P1806S

c.5416C>T

28 papers

NM_007294.4

p.P1806A

c.5416C>G

1 paper

NM_007294.4

p.P1806_I1807insA

c.5416_5420ins3

2 papers

NM_007294.4

p.P1806T

c.5416C>A

6 papers

NM_007294.4

p.H1805L

c.5414A>T

4 papers

NM_007294.4

p.H1805R

c.5414A>G

10 papers

NM_007294.4

p.H1805P

c.5414A>C

1 paper

NM_007294.4

p.P1806fs

c.5416_5417fs

4 papers

NM_007294.4

p.H1805Y

c.5413C>T