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

62 papers

NM_007294.4

p.V1833M

c.5497G>A

Surrounding Variants

2 papers

NM_007294.4

p.V1833L

c.5497G>T

2 papers

NM_007294.4

p.V1833L

c.5497G>C

16 papers

NM_007294.4

p.V1833fs

c.5497_5498fs

1 paper

NM_007294.4

p.C1828_V1832delFs

c.5484_5496del13

5 papers

NM_007294.4

p.V1833G

c.5498T>G

3 papers

NM_007294.4

p.V1833A

c.5498T>C

5 papers

NM_007294.4

p.V1833E

c.5498T>A

1 paper

NM_007294.4

p.V1832_V1833insFs

c.5496_5497insT

1 paper

NM_007294.4

p.V1832insFs

c.5495_5496insTT

1 paper

NM_007294.4

p.V1832V

c.5496G>A

4 papers

NM_007294.4

p.V1832G

c.5495T>G

4 papers

NM_007294.4

p.V1832A

c.5495T>C