Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB5
Variant:p.I314I

DNAJB5

31 papers

RefSeq Summary

This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins. The encoded protein contains an N-terminal DNAJ domain and a C-terminal substrate binding domain but lacks...

Pfam Domains

DnaJaa 4–65UCSCDnaJ domain
DnaJaa 38–99UCSCDnaJ domain
DnaJ_Caa 171–330UCSCDnaJ C terminal domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member B5

HGNC Alias Symbol

Hsc40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001349723.3
p.I314I
c.942C>T
Surrounding Variants
1 paper
NM_001349723.3
p.T278T
c.834C>A
1 paper
NM_001349723.3
p.M262T
c.785T>C
1 paper
NM_001349723.3
p.R248Q
c.743G>A
1 paper
NM_001349723.3
p.P242P
c.726A>T
1 paper
NM_001349723.3
p.R236C
c.706C>T
1 paper
NM_001349723.3
p.A344V
c.1031C>T
1 paper
NM_001349723.3
p.G347S
c.1039G>A
1 paper
NM_001349723.3
p.P209Q
c.626C>A
1 paper
NM_001349723.3
p.P209S
c.625C>T
1 paper
NM_001349723.3
p.I368S
c.1103T>G
1 paper
NM_001349723.3
p.S172insFs
c.515dupC
1 paper
NM_001349723.3
p.P407A
c.1219C>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."