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.A1823Splc

c.5468-41A>G

Surrounding Variants

2 papers

NM_007294.4

p.A1823Splc

c.5468-40T>A

1 paper

NM_007294.4

p.A1823Splc

c.5468-30C>G

2 papers

NM_007294.4

p.A1823Splc

c.5468-28A>T

1 paper

NM_007294.4

p.A1823Splc

c.5468-25C>T

1 paper

NM_007294.4

p.A1823Splc

c.5468-18T>A

1 paper

NM_007294.4

p.A1823Splc

c.5468-17G>A

1 paper

NM_007294.4

p.A1823Splc

c.5468-67G>A

1 paper

NM_007294.4

p.A1823Splc

c.5468-13T>C

1 paper

NM_007294.4

p.A1823Splc

c.5468-12C>A

17 papers

NM_007294.4

p.A1823Splc

c.5468-10C>A

3 papers

NM_007294.4

p.A1823Splc

c.5468-8G>A

1 paper

NM_007294.4

p.A1823Splc

c.5468-5T>G