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

53 papers

NM_007294.4

p.A1669S

c.5005G>T

NM_007300.4

p.A1690S

c.5068G>T

Surrounding Variants

8 papers

NM_007294.4

p.A1669P

c.5005G>C

9 papers

NM_007294.4

p.A1669T

c.5005G>A

1 paper

NM_007294.4

p.F1668delFs

c.5004delA

1 paper

NM_007294.4

p.A1669fs

c.5005_5006fs

1 paper

NM_007294.4

p.F1668fs

c.5002_5003fs

10 papers

NM_007294.4

p.F1668L

c.5004T>G

10 papers

NM_007294.4

p.F1668L

c.5004T>A

5 papers

NM_007294.4

p.A1669V

c.5006C>T

8 papers

NM_007294.4

p.A1669G

c.5006C>G

7 papers

NM_007294.4

p.A1669D

c.5006C>A

2 papers

NM_007294.4

p.A1669delFs

c.5005delC

10 papers

NM_007294.4

p.F1668C

c.5003T>G