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

3 papers

NM_007294.4

p.Y1429fs

c.4285_4286fs

Surrounding Variants

19 papers

NM_007294.4

p.Y1429*

c.4287C>G

2 papers

NM_007294.4

p.Y1429insFs

c.4286_4287insAG

23 papers

NM_007294.4

p.Y1429*

c.4287C>A

1 paper

NM_007294.4

p.P1430fs

c.4288_4289fs

9 papers

NM_007294.4

p.P1430S

c.4288C>T

1 paper

NM_007294.4

p.P1430A

c.4288C>G

1 paper

NM_007294.4

p.P1430insFs

c.4288_4289ins10

2 papers

NM_007294.4

p.P1430T

c.4288C>A

5 papers

NM_007294.4

p.Y1429C

c.4286A>G

5 papers

NM_007294.4

p.Y1429insFs

c.4285_4286insT

1 paper

NM_007294.4

p.Y1429insFs

c.4286_4287insG

3 papers

NM_007294.4

p.Y1429insFs

c.4285_4286insG