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.N547K

c.1641T>A

Surrounding Variants

2 papers

NM_007294.4

p.N547_I548insFs

c.1641_1642insG

1 paper

NM_007294.4

p.N547fs

c.1639_1640fs

3 papers

NM_007294.4

p.N547N

c.1641T>C

1 paper

NM_007294.4

p.N547delFs

c.1640delT

1 paper

NM_007294.4

p.I548fs

c.1642_1643fs

2 papers

NM_007294.4

p.I548V

c.1642A>G

1 paper

NM_007294.4

p.I548S

c.1643T>G

3 papers

NM_007294.4

p.I548N

c.1643T>A

1 paper

NM_007294.4

p.N547Y

c.1639A>T

1 paper

NM_007294.4

p.N547D

c.1639A>G

2 papers

NM_007294.4

p.N547H

c.1639A>C

1 paper

NM_007297.4

p.I501ins2

c.1502_1503ins6