Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB11
Variant:p.I320_T321del2

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.I320_T321del2
c.958_962del6
Surrounding Variants
1 paper
NM_016306.6
p.G316S
c.946G>A
1 paper
NM_016306.6
p.D325H
c.973G>C
1 paper
NM_016306.6
p.F326C
c.977T>G
1 paper
NM_016306.6
p.N312_N313Fs
c.935_937delinsAFs
1 paper
NM_016306.6
p.P307S
c.919C>T
1 paper
NM_016306.6
p.R336I
c.1007G>T
2 papers
NM_016306.6
p.L299V
c.895C>G
1 paper
NM_016306.6
p.I292delFs
c.876delC
1 paper
NM_016306.6
p.H286delFs
c.856_857delCA
3 papers
NM_016306.6
p.K284_V285Splc
c.853-10G>A
1 paper
NM_016306.6
p.K284_V285Splc
c.852+218T>C
1 paper
NM_016306.6
p.K284fs
c.850_851fs
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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."