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.T1773T

c.5319C>G

Surrounding Variants

20 papers

NM_007294.4

p.T1773I

c.5318C>T

27 papers

NM_007294.4

p.T1773S

c.5318C>G

1 paper

NM_007294.4

p.T1773N

c.5318C>A

6 papers

NM_007294.4

p.N1774fs

c.5320_5321fs

2 papers

NM_007294.4

p.N1774Y

c.5320A>T

1 paper

NM_007294.4

p.N1774D

c.5320A>G

2 papers

NM_007294.4

p.N1774H

c.5320A>C

21 papers

NM_007300.4

p.T1794_N1795insFs

c.5382_5383insC

NM_007294.4

p.T1773insFs

c.5319dupC

26 papers

NM_007294.4

p.T1773S

c.5317A>T

1 paper

NM_007294.4

p.N1774I

c.5321A>T

8 papers

NM_007294.4

p.N1774S

c.5321A>G

4 papers

NM_007294.4

p.T1773A

c.5317A>G