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

193 papers

NM_007294.4

p.V1234_N1235delFs

c.3700_3704del5

Surrounding Variants

1 paper

NM_007294.4

p.N1235K

c.3705C>G

3 papers

NM_007294.4

p.N1235_N1236insFs

c.3705_3706insA

1 paper

NM_007294.4

p.N1235K

c.3705C>A

3 papers

NM_007294.4

p.N1235delFs

c.3703delT

4 papers

NM_007294.4

p.N1236fs

c.3706_3707fs

1 paper

NM_007294.4

p.N1235I

c.3704A>T

2 papers

NM_007294.4

p.N1236D

c.3706A>G

1 paper

NM_007294.4

p.V1234_N1235del2

c.3700_3704del6

3 papers

NM_007294.4

p.N1235fs

c.3703_3704fs

7 papers

NM_007294.4

p.N1236S

c.3707A>G

1 paper

NM_007294.4

p.N1236fs

c.3706_3707fs

51 papers

NM_007294.4

p.N1236K

c.3708T>G