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.Q1846Q

c.5538G>A

Surrounding Variants

5 papers

NM_007294.4

p.Q1846H

c.5538G>T

6 papers

NM_007294.4

p.Q1846H

c.5538G>C

5 papers

NM_007294.4

p.Q1846delFs

c.5537delT

1 paper

NM_007294.4

p.C1847G

c.5539T>G

1 paper

NM_007294.4

p.C1847R

c.5539T>C

1 paper

NM_007294.4

p.Y1845_C1847Fs

c.5534_5539delinsCCAGTGCCAGGACAGCAGGFs

1 paper

NM_007294.4

p.Q1846R

c.5537A>G

5 papers

NM_007294.4

p.Q1846delFs

c.5536delG

3 papers

NM_007294.4

p.C1847F

c.5540G>T

2 papers

NM_007294.4

p.C1847Y

c.5540G>A

1 paper

NM_007294.4

p.Y1845_Q1846del2

c.5533_5537del6

2 papers

NM_007294.4

p.Q1846fs

c.5536_5537fs