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

138 papers

NM_007294.4

p.R71G

c.211A>G

Surrounding Variants

21 papers

NM_007294.4

p.R71fs

c.211_212fs

2 papers

NM_007294.4

p.R71W

c.211A>T

2 papers

NM_007294.4

p.R71R

c.211A>C

14 papers

NM_007294.4

p.R71M

c.212G>T

32 papers

NM_007294.4

p.R71insFs

c.211dupA

1 paper

NM_007294.4

p.K70_R71insFs

c.210_211dupAA

7 papers

NM_007294.4

p.R71T

c.212G>C

42 papers

NM_007294.4

p.R71K

c.212G>A

6 papers

NM_007294.4

p.R71delFs

c.211delT

2 papers

NM_007297.4

p.K23delFs

c.68_69delTT

NM_007294.4

p.K70_R71delFs

c.210_211delTT

7 papers

NM_007294.4

p.K70N

c.210A>T

2 papers

NM_007294.4

p.K70K

c.210A>G