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.A1453Splc

c.4358-16C>T

Surrounding Variants

14 papers

NM_007294.4

p.A1453Splc

c.4358-10C>T

1 paper

NM_007294.4

p.A1453Splc

c.4358-8A>T

1 paper

NM_007294.4

p.A1453Splc

c.4358-8A>G

1 paper

NM_007294.4

p.A1453Splc

c.4358-6T>G

3 papers

NM_007294.4

p.A1453Splc

c.4358-28T>C

5 papers

NM_007294.4

p.A1453Splc

c.4358-3A>G

6 papers

NM_007294.4

p.A1453Splc

c.4358-2A>G

2 papers

NM_007294.4

p.A1453S

c.4357G>T

5 papers

NM_007294.4

p.A1453Splc

c.4358-1G>C

1 paper

NM_007294.4

p.A1453Splc

c.4358-31A>G

1 paper

NM_007294.4

p.A1453Splc

c.4358-31A>C

2 papers

NM_007294.4

p.A1453V

c.4358C>T