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

6 papers

NM_007294.4

p.S434_D435delFs

c.1301_1304del4

Surrounding Variants

3 papers

NM_007294.4

p.D435fs

c.1303_1304fs

1 paper

NM_007294.4

p.D435D

c.1305T>C

1 paper

NM_007294.4

p.S434_D435delFs

c.1300_1304del5

2 papers

NM_007294.4

p.P436S

c.1306C>T

1 paper

NM_007294.4

p.P436A

c.1306C>G

1 paper

NM_007294.4

p.P436T

c.1306C>A

1 paper

NM_007294.4

p.S434_D435delFs

c.1302_1305del4

3 papers

NM_007294.4

p.D435fs

c.1303_1304fs

9 papers

NM_007294.4

p.D435Y

c.1303G>T

5 papers

NM_007294.4

p.A433_S434insFs

c.1299_1302dup4

1 paper

NM_007294.4

p.D435H

c.1303G>C

1 paper

NM_007294.4

p.D435N

c.1303G>A