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.E1682*

c.5044G>T

Surrounding Variants

1 paper

NM_007294.4

p.T1681_E1682insFs

c.5043_5044ins4

4 papers

NM_007294.4

p.E1682Q

c.5044G>C

33 papers

NM_007294.4

p.E1682K

c.5044G>A

5 papers

NM_007294.4

p.T1681delFs

c.5042_5043delAG

2 papers

NM_007294.4

p.T1681delFs

c.5042delG

14 papers

NM_007294.4

p.E1682V

c.5045A>T

5 papers

NM_007294.4

p.E1682G

c.5045A>G

5 papers

NM_007294.4

p.E1682A

c.5045A>C

1 paper

NM_007294.4

p.E1682delFs

c.5044delC

5 papers

NM_007294.4

p.T1681I

c.5042C>T

5 papers

NM_007294.4

p.T1681S

c.5042C>G

2 papers

NM_007294.4

p.I1680_T1681insFs

c.5038_5041dup4