Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC21
Variant:p.Q227R

DNAJC21

130 papers

RefSeq Summary

This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein bind...

Pfam Domains

DnaJaa 3–66UCSCDnaJ domain
ZUO1-like_ZHDaa 106–218UCSCZuotin-like, zuotin homology domain
zf-C2H2_jazaa 313–339UCSCZinc-finger double-stranded RNA-binding

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member C21

HGNC Alias Symbols

GS3; DNAJA5; JJJ1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001012339.3
p.Q227R
c.680A>G
Surrounding Variants
1 paper
NM_001012339.3
p.E226Q
c.676G>C
1 paper
NM_001012339.3
p.N228K
c.684T>A
1 paper
NM_001012339.3
p.N228K
c.684T>G
1 paper
NM_001012339.3
p.R221Q
c.662G>A
2 papers
NM_001012339.3
p.R221*
c.661C>T
1 paper
NM_001012339.3
p.A235T
c.703G>A
1 paper
NM_001012339.3
p.E236V
c.707A>T
1 paper
NM_001012339.3
p.Q218*
c.652C>T
1 paper
NM_001012339.3
p.E237K
c.709G>A
1 paper
NM_001012339.3
p.E237D
c.711G>C
1 paper
NM_001012339.3
p.E237D
c.711G>T
1 paper
NM_001012339.3
p.R216fs
c.646_647fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."