Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC5

DNAJC5

196 papers

RefSeq Summary

This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membr...

Pfam Domains

DnaJaa 15–77UCSCDnaJ domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member C5

HGNC Previous Symbol

CLN4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
50 papers
NM_025219.3
p.L115R
c.344T>G
22 papers
NM_025219.3
p.L116del1
c.346_347delCTC
7 papers
NM_025219.3
p.C128Y
c.383G>A
4 papers
NM_025219.3
p.H43Q
c.129C>A
4 papers
NM_025219.3
p.H43Q
c.129C>G
4 papers
NM_025219.3
p.C124_C133ins3
c.370_399dup30
3 papers
NM_025219.3
p.K56T
c.167A>C
3 papers
NM_025219.3
p.A63V
c.188C>T
3 papers
NM_025219.3
p.E93V
c.278A>T
3 papers
NM_025219.3
p.L116R
c.347T>G
2 papers
NM_025219.3
p.M1I
c.3G>A
2 papers
NM_025219.3
p.M1I
c.3G>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."