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

4 papers

NM_007294.4

p.T1622S

c.4864A>T

Surrounding Variants

3 papers

NM_007294.4

p.T1622A

c.4864A>G

1 paper

NM_007294.4

p.T1622P

c.4864A>C

2 papers

NM_007294.4

p.D1621delFs

c.4862delT

1 paper

NM_007294.4

p.T1622S

c.4865C>G

2 papers

NM_007294.4

p.T1622delFs

c.4864delT

1 paper

NM_007294.4

p.T1622T

c.4866T>C

1 paper

NM_007294.4

p.D1621V

c.4862A>T

4 papers

NM_007294.4

p.D1621G

c.4862A>G

3 papers

NM_007294.4

p.D1621A

c.4862A>C

1 paper

NM_007294.4

p.T1620_D1621del1

c.4859_4861delCAG

3 papers

NM_007294.4

p.A1623fs

c.4867_4868fs

3 papers

NM_007294.4

p.D1621fs

c.4861_4862fs