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

19 papers

NM_007294.4

p.D96G

c.287A>G

Surrounding Variants

8 papers

NM_007294.4

p.D96V

c.287A>T

9 papers

NM_007294.4

p.D96A

c.287A>C

11 papers

NM_007294.4

p.L95_D96delFs

c.283_286del4

5 papers

NM_007294.4

p.D96Y

c.286G>T

1 paper

NM_007294.4

p.D96_T97insAG

c.286_290ins6

14 papers

NM_007294.4

p.D96H

c.286G>C

21 papers

NM_007294.4

p.D96N

c.286G>A

11 papers

NM_007294.4

p.D96E

c.288C>G

11 papers

NM_007294.4

p.D96E

c.288C>A

1 paper

NM_007294.4

p.D96fs

c.286_287fs

1 paper

NM_007294.4

p.L95fs

c.283_284fs

1 paper

NM_007294.4

p.L95L

c.285T>G