Varaico: Literature-Extracted Genetic Variants

Gene:DNAJA3
Variant:p.G315D

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.G315D
c.944G>A
Surrounding Variants
1 paper
NM_005147.6
p.G315G
c.945C>T
1 paper
NM_005147.6
p.V318E
c.953T>A
1 paper
NM_005147.6
p.T330M
c.989C>T
1 paper
NM_005147.6
p.P309T
c.925C>A
1 paper
NM_005147.6
p.V291V
c.873C>A
1 paper
NM_005147.6
p.I285insFs
c.854dupT
1 paper
NM_005147.6
p.G282D
c.845G>A
1 paper
NM_005147.6
p.I346M
c.1038C>G
1 paper
NM_005147.6
p.R238G
c.712C>G
1 paper
NM_005147.6
p.G177D
c.530G>A
1 paper
NM_005147.6
p.G177S
c.529G>A
1 paper
NM_005147.6
p.S169A
c.505T>G
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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."