Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB11
Variant:p.K284fs

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.K284fs
c.850_851fs
Surrounding Variants
1 paper
NM_016306.6
p.K284fs
c.850_851fs
1 paper
NM_016306.6
p.H283insFs
c.849dupC
1 paper
NM_016306.6
p.G282insFs
c.844_845dupGG
1 paper
NM_016306.6
p.I277_H283insFs
c.831_849dup19
5 papers
NM_016306.6
p.I264V
c.790A>G
1 paper
NM_016306.6
p.P249L
c.746C>T
1 paper
NM_016306.6
p.K247Splc
c.741-1G>A
1 paper
NM_016306.6
p.K284_V285Splc
c.852+218T>C
3 papers
NM_016306.6
p.K284_V285Splc
c.853-10G>A
1 paper
NM_016306.6
p.H286delFs
c.856_857delCA
1 paper
NM_016306.6
p.I292delFs
c.876delC
2 papers
NM_016306.6
p.L299V
c.895C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."