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

20 papers

NM_007294.4

p.T1773I

c.5318C>T

Surrounding Variants

27 papers

NM_007294.4

p.T1773S

c.5318C>G

1 paper

NM_007294.4

p.T1773N

c.5318C>A

1 paper

NM_007294.4

p.T1773T

c.5319C>G

26 papers

NM_007294.4

p.T1773S

c.5317A>T

4 papers

NM_007294.4

p.T1773A

c.5317A>G

1 paper

NM_007294.4

p.T1773P

c.5317A>C

1 paper

NM_007294.4

p.F1772L

c.5316C>G

3 papers

NM_007294.4

p.F1772fs

c.5314_5315fs

1 paper

NM_007294.4

p.F1772L

c.5316C>A

6 papers

NM_007294.4

p.F1772delFs

c.5315delA

6 papers

NM_007294.4

p.N1774fs

c.5320_5321fs

2 papers

NM_007294.4

p.N1774Y

c.5320A>T