Varaico: Literature-Extracted Genetic Variants

Gene:DNAJA3
Variant:p.K119N

DNAJA3

54 papers

RefSeq Summary

This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimer...

Pfam Domains

DnaJaa 93–155UCSCDnaJ domain
DnaJaa 93–155UCSCDnaJ domain
DnaJ_Caa 209–413UCSCDnaJ C terminal domain
DnaJ_CXXCXGXGaa 236–296UCSCDnaJ central domain
DnaJ_CXXCXGXGaa 236–296UCSCDnaJ central domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member A3

HGNC Previous Symbol

TID1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005147.6
p.K119N
c.357G>C
Surrounding Variants
1 paper
NM_005147.6
p.K119N
c.357G>T
3 papers
NM_005147.6
p.H121Q
c.363C>A
3 papers
NM_005147.6
p.H121Q
c.363C>G
1 paper
NM_005147.6
p.Q137H
c.411G>C
1 paper
NM_005147.6
p.Q137H
c.411G>T
1 paper
NM_005147.6
p.G99G
c.297A>T
1 paper
NM_005147.6
p.Y95H
c.283T>C
2 papers
NM_005147.6
p.P88A
c.262C>G
3 papers
NM_005147.6
p.N75Y
c.223A>T
1 paper
NM_005147.6
p.L145delFs
c.434delT
1 paper
NM_005147.6
p.L145*
c.434T>A
2 papers
NM_005147.6
p.R151T
c.452G>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."