Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB11
Variant:p.Q186P

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
1 paper
NM_016306.6
p.Q186P
c.557A>C
Surrounding Variants
1 paper
NM_016306.6
p.T188A
c.562A>G
1 paper
NM_016306.6
p.G183W
c.547G>T
2 papers
NM_016306.6
p.T178fs
c.532_533fs
2 papers
NM_016306.6
p.T178delFs
c.532delA
1 paper
NM_016306.6
p.T177P
c.529A>C
1 paper
NM_016306.6
p.M175L
c.523A>C
1 paper
NM_016306.6
p.M175L
c.523A>T
1 paper
NM_016306.6
p.K168*
c.502A>T
2 papers
NM_016306.6
p.R167W
c.499C>T
1 paper
NM_016306.6
p.K166_R167insTT
c.496_500ins6
1 paper
NM_016306.6
p.R161R
c.483G>A
1 paper
NM_016306.6
p.A160fs
c.478_479fs
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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."