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

9 papers

NM_007294.4

p.A224Splc

c.670+8C>T

Surrounding Variants

1 paper

NM_007294.4

p.A224Splc

c.670+8C>G

1 paper

NM_007294.4

p.A224Splc

c.670+11A>G

1 paper

NM_007294.4

p.A224Splc

c.670+12G>A

3 papers

NM_007294.4

p.A224Splc

c.670+4A>G

1 paper

NM_007294.4

p.A224Splc

c.670+14T>C

1 paper

NM_007294.4

p.A224Splc

c.670+14T>A

1 paper

NM_007294.4

p.R213_A224delFs

c.639_670del32

1 paper

NM_007294.4

p.G211_A224del0

c.632_670del39

1 paper

NM_007294.4

p.A224Splc

c.670+15T>C

4 papers

NM_007294.4

p.A224Splc

c.670+1G>T

5 papers

NM_007294.4

p.A224Splc

c.670+1G>A

1 paper

NM_007294.4

p.S217_A224delFs

c.651_670del20