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

4 papers

NM_007294.4

p.K1750R

c.5249A>G

Surrounding Variants

2 papers

NM_007294.4

p.K1750M

c.5249A>T

2 papers

NM_007294.4

p.K1750T

c.5249A>C

2 papers

NM_007294.4

p.K1750N

c.5250G>T

4 papers

NM_007294.4

p.K1750insFs

c.5249dupA

2 papers

NM_007294.4

p.K1750N

c.5250G>C

1 paper

NM_007294.4

p.K1750delFs

c.5249delT

1 paper

NM_007294.4

p.K1750fs

c.5248_5249fs

1 paper

NM_007294.4

p.K1750*

c.5248A>T

2 papers

NM_007294.4

p.K1750E

c.5248A>G

2 papers

NM_007294.4

p.K1750Q

c.5248A>C

1 paper

NM_007294.4

p.K1750insFs

c.5248_5249insT

1 paper

NM_007294.4

p.K1750insFs

c.5248_5249insTC