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.S220T

c.658T>A

Surrounding Variants

2 papers

NM_007294.4

p.S220P

c.658T>C

1 paper

NM_007294.4

p.R213_D219del7

c.637_656del21

1 paper

NM_007294.4

p.D219_S220insFs

c.657_658insC

1 paper

NM_007294.4

p.D219E

c.657T>G

1 paper

NM_007294.4

p.D219E

c.657T>A

1 paper

NM_007294.4

p.E203_L218del16

c.607_653del48

4 papers

NM_007294.4

p.S220F

c.659C>T

3 papers

NM_007294.4

p.S220C

c.659C>G

3 papers

NM_007294.4

p.S220Y

c.659C>A

1 paper

NM_007294.4

p.S220delFs

c.658delA

2 papers

NM_007294.4

p.D219_S220delFs

c.657_658delAA

2 papers

NM_007294.4

p.S220fs

c.658_659fs