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_007300.4

p.K1521fs

c.4561_4562fs

Surrounding Variants

1 paper

NM_007294.4

p.K1500Q

c.4498A>C

1 paper

NM_007294.4

p.P1498_S1499del2

c.4492_4496del6

1 paper

NM_007294.4

p.K1500I

c.4499A>T

1 paper

NM_007294.4

p.K1500T

c.4499A>C

4 papers

NM_007294.4

p.S1499F

c.4496C>T

4 papers

NM_007294.4

p.P1498insFs

c.4494dupT

1 paper

NM_007294.4

p.S1499_K1500insA

c.4495_4499ins3

1 paper

NM_007294.4

p.S1499P

c.4495T>C

1 paper

NM_007294.4

p.S1499T

c.4495T>A

1 paper

NM_007294.4

p.S1499fs

c.4495_4496fs

1 paper

NM_007300.4

p.K1521delFs

c.4563delT

2 papers

NM_007294.4

p.P1498delFs

c.4493delG