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.M18fs

c.52_53fs

Surrounding Variants

6 papers

NM_007294.4

p.M18L

c.52A>T

9 papers

NM_007294.4

p.M18V

c.52A>G

7 papers

NM_007294.4

p.M18L

c.52A>C

1 paper

NM_007294.4

p.A17insFs

c.51dupT

1 paper

NM_007294.4

p.M18_Q19insG

c.52_56ins3

1 paper

NM_007294.4

p.M18_Q19insGCG

c.52_56ins9

6 papers

NM_007294.4

p.A17delFs

c.51delA

2 papers

NM_007294.4

p.A17fs

c.49_50fs

11 papers

NM_007294.4

p.M18R

c.53T>G

1 paper

NM_007294.4

p.A17A

c.51T>G

83 papers

NM_007294.4

p.M18T

c.53T>C

3 papers

NM_007294.4

p.A17A

c.51T>C