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.N247K

c.741C>G

Surrounding Variants

2 papers

NM_007294.4

p.N247N

c.741C>T

1 paper

NM_007294.4

p.N247insFs

c.740_741insAG

1 paper

NM_007294.4

p.N247K

c.741C>A

2 papers

NM_007294.4

p.T248S

c.742A>T

2 papers

NM_007294.4

p.N247I

c.740A>T

3 papers

NM_007294.4

p.T248A

c.742A>G

1 paper

NM_007294.4

p.N247S

c.740A>G

2 papers

NM_007294.4

p.T248P

c.742A>C

1 paper

NM_007294.4

p.N247insFs

c.739_740insAG

1 paper

NM_007294.4

p.L246_N247del2

c.736_740del6

1 paper

NM_007294.4

p.L246_N247delFs

c.738_739delTC

1 paper

NM_007294.4

p.T248I

c.743C>T