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.L292fs

c.874_875fs

Surrounding Variants

1 paper

NM_007294.4

p.L291delFs

c.873delT

2 papers

NM_007294.4

p.L290_L291del2

c.868_872del6

1 paper

NM_007294.4

p.L292P

c.875T>C

1 paper

NM_007294.4

p.L292delFs

c.874delG

3 papers

NM_007294.4

p.L291F

c.873A>T

2 papers

NM_007294.4

p.L291L

c.873A>G

2 papers

NM_007294.4

p.L291F

c.873A>C

1 paper

NM_007294.4

p.L291insFs

c.871_872insT

2 papers

NM_007294.4

p.L291fs

c.871_872fs

2 papers

NM_007294.4

p.L291*

c.872T>G

2 papers

NM_007294.4

p.L291*

c.872T>A

2 papers

NM_007294.4

p.L292fs

c.874_875fs