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

69 papers

NM_007294.4

p.Y130*

c.390C>G

Surrounding Variants

83 papers

NM_007294.4

p.Y130*

c.390C>A

1 paper

NM_007294.4

p.Y130delFs

c.388_389delTA

1 paper

NM_007294.4

p.S127_Y130del0

c.381_389del9

4 papers

NM_007294.4

p.R131*

c.391A>T

3 papers

NM_007294.4

p.Y130F

c.389A>T

2 papers

NM_007294.4

p.R131G

c.391A>G

2 papers

NM_007294.4

p.Y130C

c.389A>G

4 papers

NM_007294.4

p.Y130S

c.389A>C

1 paper

NM_007294.4

p.M128_Y130delFs

c.384_388del5

1 paper

NM_007294.4

p.Y130delFs

c.390delG

1 paper

NM_007294.4

p.G129_Y130insFs

c.387_388insC

3 papers

NM_007294.4

p.Y130H

c.388T>C