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.C1787delins

c.5360_5361delinsAG

Surrounding Variants

2 papers

NM_007294.4

p.C1787W

c.5361T>G

11 papers

NM_007294.4

p.G1788C

c.5362G>T

2 papers

NM_007294.4

p.C1787F

c.5360G>T

38 papers

NM_007294.4

p.C1787S

c.5360G>C

2 papers

NM_007294.4

p.G1788R

c.5362G>C

10 papers

NM_007294.4

p.C1787Y

c.5360G>A

6 papers

NM_007294.4

p.G1788S

c.5362G>A

4 papers

NM_007294.4

p.C1787G

c.5359T>G

3 papers

NM_007294.4

p.C1787R

c.5359T>C

41 papers

NM_007294.4

p.C1787S

c.5359T>A

6 papers

NM_007294.4

p.C1787fs

c.5359_5360fs

1 paper

NM_007294.4

p.L1786_C1787Fs

c.5357_5359delinsAFs