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.A622_L623delFs

c.1865_1868del4

Surrounding Variants

1 paper

NM_007294.4

p.L623R

c.1868T>G

5 papers

NM_007294.4

p.L623P

c.1868T>C

6 papers

NM_007294.4

p.E624*

c.1870G>T

8 papers

NM_007294.4

p.E624K

c.1870G>A

1 paper

NM_007294.4

p.T617_L623del7

c.1849_1868del21

1 paper

NM_007297.4

p.S568_L576del0

c.1704_1727del24

1 paper

NM_007294.4

p.L623F

c.1867C>T

1 paper

NM_007294.4

p.E624V

c.1871A>T

2 papers

NM_007294.4

p.A622A

c.1866G>C

5 papers

NM_007294.4

p.A622A

c.1866G>A

1 paper

NM_007297.4

p.L576_E577del1

c.1728_1730delTCA

45 papers

NM_007294.4

p.A622V

c.1865C>T