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

5 papers

NM_007294.4

p.T1620A

c.4858A>G

Surrounding Variants

1 paper

NM_007294.4

p.T1619delFs

c.4856delG

2 papers

NM_007294.4

p.T1620I

c.4859C>T

1 paper

NM_007294.4

p.T1620T

c.4860T>C

5 papers

NM_007294.4

p.T1619I

c.4856C>T

1 paper

NM_007294.4

p.T1619insFs

c.4856_4857insTA

3 papers

NM_007294.4

p.D1621fs

c.4861_4862fs

5 papers

NM_007294.4

p.T1619A

c.4855A>G

1 paper

NM_007294.4

p.H1618Q

c.4854T>G

5 papers

NM_007294.4

p.H1618Q

c.4854T>A

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