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

42 papers

NM_007294.4

p.C47F

c.140G>T

Surrounding Variants

3 papers

NM_007294.4

p.C47insFs

c.139dupT

13 papers

NM_007294.4

p.C47S

c.140G>C

29 papers

NM_007294.4

p.C47Y

c.140G>A

4 papers

NM_007294.4

p.F46delFs

c.136delA

33 papers

NM_007294.4

p.C47G

c.139T>G

18 papers

NM_007294.4

p.C47R

c.139T>C

16 papers

NM_007294.4

p.C47S

c.139T>A

2 papers

NM_007294.4

p.C47C

c.141C>T

14 papers

NM_007294.4

p.C47W

c.141C>G

5 papers

NM_007294.4

p.C47*

c.141C>A

4 papers

NM_007294.4

p.C47fs

c.139_140fs

1 paper

NM_007294.4

p.F46_C47Fs

c.137_141delinsAATTTATAGATTTFs