Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC21
Variant:p.R173*

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
10 papers
NM_001012339.3
p.R173*
c.517C>T
Surrounding Variants
7 papers
NM_001012339.3
p.Q174*
c.520C>T
1 paper
NM_001012339.3
p.D171Y
c.511G>T
7 papers
NM_001012339.3
p.R182*
c.544C>T
1 paper
NM_001012339.3
p.K162N
c.486G>C
1 paper
NM_001012339.3
p.K162N
c.486G>T
1 paper
NM_001012339.3
p.K162R
c.485A>G
1 paper
NM_001012339.3
p.E185V
c.554A>T
3 papers
NM_001012339.3
p.W155R
c.463T>A
3 papers
NM_001012339.3
p.W155R
c.463T>C
1 paper
NM_001012339.3
p.R192W
c.574C>T
7 papers
NM_001012339.3
p.V148fs
c.442_443fs
1 paper
NM_001012339.3
p.E198D
c.594G>C
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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."