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

45 papers

NM_007294.4

p.T1691I

c.5072C>T

Surrounding Variants

14 papers

NM_007294.4

p.T1691R

c.5072C>G

5 papers

NM_007294.4

p.T1691insFs

c.5071dupA

65 papers

NM_007294.4

p.T1691K

c.5072C>A

9 papers

NM_007294.4

p.T1691T

c.5073A>T

5 papers

NM_007294.4

p.T1691S

c.5071A>T

16 papers

NM_007294.4

p.T1691A

c.5071A>G

5 papers

NM_007294.4

p.T1691T

c.5073A>G

8 papers

NM_007294.4

p.T1691P

c.5071A>C

3 papers

NM_007294.4

p.T1691T

c.5073A>C

2 papers

NM_007294.4

p.T1691fs

c.5071_5072fs

1 paper

NM_007294.4

p.M1689_K1690delFs

c.5067_5070del4

15 papers

NM_007294.4

p.D1692Y

c.5074G>T