Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB5
Variant:p.S85del1

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.S85del1
c.253_254delTCG
Surrounding Variants
1 paper
NM_001349723.3
p.N88S
c.263A>G
1 paper
NM_001349723.3
p.I80S
c.239T>G
1 paper
NM_001349723.3
p.D90E
c.270T>A
1 paper
NM_001349723.3
p.E115E
c.345G>A
1 paper
NM_001349723.3
p.D129E
c.387C>A
1 paper
NM_001349723.3
p.D129E
c.387C>G
1 paper
NM_001349723.3
p.R61Splc
c.182+630G>C
1 paper
NM_001349723.3
p.R61G
c.181C>G
4 papers
NM_001349723.3
p.P15S
c.43C>T
1 paper
NM_001349723.3
p.R4H
c.11G>A
1 paper
NM_001349723.3
p.M1I
c.3G>A
1 paper
NM_001349723.3
p.D165E
c.495C>A
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