Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB11
Variant:p.R206*

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
6 papers
NM_016306.6
p.R206*
c.616C>T
Surrounding Variants
1 paper
NM_016306.6
p.R206G
c.616C>G
1 paper
NM_016306.6
p.T207M
c.620C>T
1 paper
NM_016306.6
p.E211*
c.631G>T
4 papers
NM_016306.6
p.K200Splc
c.600-2A>C
1 paper
NM_016306.6
p.G219S
c.655G>A
1 paper
NM_016306.6
p.F224delFs
c.672delT
1 paper
NM_016306.6
p.G228C
c.682G>T
1 paper
NM_016306.6
p.T188A
c.562A>G
1 paper
NM_016306.6
p.Q186P
c.557A>C
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
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