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.N192H

c.574A>C

Surrounding Variants

1 paper

NM_007294.4

p.N192Y

c.574A>T

1 paper

NM_007294.4

p.N192D

c.574A>G

1 paper

NM_007294.4

p.V191delFs

c.573delA

1 paper

NM_007294.4

p.V191delFs

c.572_573delAA

1 paper

NM_007294.4

p.V191V

c.573T>A

1 paper

NM_007294.4

p.N192I

c.575A>T

2 papers

NM_007294.4

p.N192S

c.575A>G

1 paper

NM_007294.4

p.D189_V191delFs

c.566_573del8

1 paper

NM_007294.4

p.V191Fs

c.572delinsCTFs

2 papers

NM_007294.4

p.N192insFs

c.574dupA

2 papers

NM_007294.4

p.V191G

c.572T>G

1 paper

NM_007294.4

p.N192K

c.576T>G