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.S1577C

c.4730C>G

Surrounding Variants

2 papers

NM_007294.4

p.S1577F

c.4730C>T

8 papers

NM_007294.4

p.S1577insFs

c.4730_4731insG

14 papers

NM_007294.4

p.S1577Y

c.4730C>A

52 papers

NM_007294.4

p.S1577P

c.4729T>C

1 paper

NM_007294.4

p.S1577fs

c.4729_4730fs

1 paper

NM_007294.4

p.D1578Y

c.4732G>T

3 papers

NM_007294.4

p.D1578H

c.4732G>C

1 paper

NM_007294.4

p.D1578N

c.4732G>A

1 paper

NM_007294.4

p.E1576D

c.4728A>T

4 papers

NM_007294.4

p.E1576E

c.4728A>G

1 paper

NM_007294.4

p.E1576D

c.4728A>C

1 paper

NM_007294.4

p.D1578V

c.4733A>T