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.T1485S

c.4454C>G

Surrounding Variants

14 papers

NM_007294.4

p.T1485I

c.4454C>T

1 paper

NM_007294.4

p.D1482_S1484ins1

c.4446_4451dup6

3 papers

NM_007294.4

p.T1485Fs

c.4453_4454delinsGFs

1 paper

NM_007294.4

p.T1485T

c.4455C>T

1 paper

NM_007294.4

p.T1485T

c.4455C>G

1 paper

NM_007294.4

p.T1485delFs

c.4453_4454delGT

4 papers

NM_007294.4

p.T1485fs

c.4453_4454fs

1 paper

NM_007294.4

p.T1485S

c.4453A>T

4 papers

NM_007294.4

p.S1486fs

c.4456_4457fs

10 papers

NM_007294.4

p.S1486C

c.4456A>T

2 papers

NM_007294.4

p.S1486G

c.4456A>G

3 papers

NM_007294.4

p.S1486R

c.4456A>C