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

1 paper

NM_007294.4

p.E730D

c.2190A>T

Surrounding Variants

1 paper

NM_007294.4

p.E730D

c.2190A>C

5 papers

NM_007294.4

p.E730fs

c.2188_2189fs

4 papers

NM_007294.4

p.E729_E730delFs

c.2185_2189del5

2 papers

NM_007294.4

p.K731E

c.2191A>G

1 paper

NM_007294.4

p.E730delFs

c.2188delC

2 papers

NM_007294.4

p.K731fs

c.2191_2192fs

14 papers

NM_007294.4

p.E730*

c.2188G>T

1 paper

NM_007294.4

p.E730insFs

c.2188_2189insC

1 paper

NM_007294.4

p.E730K

c.2188G>A

8 papers

NM_007294.4

p.E729delFs

c.2187delT

1 paper

NM_007294.4

p.E729delFs

c.2186_2187delTT

1 paper

NM_007294.4

p.R728_E729del2

c.2182_2186del6