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

4 papers

NM_007294.4

p.P1806P

c.5418A>G

Surrounding Variants

1 paper

NM_007294.4

p.P1806P

c.5418A>T

1 paper

NM_007294.4

p.P1806fs

c.5416_5417fs

2 papers

NM_007294.4

p.P1806delFs

c.5417delG

3 papers

NM_007294.4

p.I1807fs

c.5419_5420fs

2 papers

NM_007294.4

p.P1806L

c.5417C>T

1 paper

NM_007294.4

p.P1806R

c.5417C>G

2 papers

NM_007294.4

p.P1806Q

c.5417C>A

2 papers

NM_007294.4

p.I1807F

c.5419A>T

12 papers

NM_007294.4

p.I1807V

c.5419A>G

2 papers

NM_007294.4

p.I1807L

c.5419A>C

1 paper

NM_007294.4

p.I1807insFs

c.5419dupA

6 papers

NM_007294.4

p.I1807S

c.5420T>G