Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB11
Variant:p.H53Q

DNAJB11

101 papers

RefSeq Summary

This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone requir...

Pfam Domains

DnaJaa 25–87UCSCDnaJ domain
DnaJ_Caa 134–327UCSCDnaJ C terminal domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member B11

HGNC Alias Symbols

EDJ; HEDJ; ERdj3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_016306.6
p.H53Q
c.159T>A
Surrounding Variants
4 papers
NM_016306.6
p.H53Q
c.159T>G
3 papers
NM_016306.6
p.P54R
c.161C>G
1 paper
NM_016306.6
p.D55N
c.163G>A
1 paper
NM_016306.6
p.D55_P61delFs
c.164_182del19
1 paper
NM_016306.6
p.D55G
c.164A>G
1 paper
NM_016306.6
p.R56fs
c.166_167fs
1 paper
NM_016306.6
p.R56insFs
c.166_167insTT
1 paper
NM_016306.6
p.R56fs
c.166_167fs
1 paper
NM_016306.6
p.Y45C
c.134A>G
1 paper
NM_016306.6
p.K42*
c.124A>T
1 paper
NM_016306.6
p.I41insFs
c.123dupT
1 paper
NM_016306.6
p.D69N
c.205G>A
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