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

5 papers

NM_007294.4

p.P985delFs

c.2955delG

Surrounding Variants

11 papers

NM_007294.4

p.I986fs

c.2956_2957fs

1 paper

NM_007294.4

p.I986V

c.2956A>G

1 paper

NM_007294.4

p.I986L

c.2956A>C

1 paper

NM_007294.4

p.P985del1

c.2953_2955delGGG

4 papers

NM_007294.4

p.I986insFs

c.2957_2958insG

3 papers

NM_007294.4

p.I986T

c.2957T>C

2 papers

NM_007294.4

p.P985_I986delins

c.2953_2956delinsC

3 papers

NM_007294.4

p.P985L

c.2954C>T

1 paper

NM_007294.4

p.I986I

c.2958C>T

1 paper

NM_007294.4

p.P985R

c.2954C>G

3 papers

NM_007294.4

p.I986fs

c.2956_2957fs

1 paper

NM_007294.4

p.I986_K987insFs

c.2958_2959insA