Varaico: Literature-Extracted Genetic Variants

Gene:DPH7
Variant:p.F67L

DPH7

26 papers

RefSeq Summary

Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is...

Pfam Domains

WD40aa 229–268UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

diphthamide biosynthesis 7

HGNC Previous Symbols

C9orf112; WDR85

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138778.5
p.F67L
c.201C>A
Surrounding Variants
1 paper
NM_138778.5
p.F67L
c.201C>G
1 paper
NM_138778.5
p.F67L
c.199T>C
1 paper
NM_138778.5
p.V81L
c.241G>C
1 paper
NM_138778.5
p.Q84H
c.252A>T
1 paper
NM_138778.5
p.Q84H
c.252A>C
1 paper
NM_138778.5
p.A46V
c.137C>T
1 paper
NM_138778.5
p.R40Q
c.119G>A
1 paper
NM_138778.5
p.R39Q
c.116G>A
1 paper
NM_138778.5
p.E13E
c.39G>A
1 paper
NM_138778.5
p.G108A
c.323G>C
1 paper
NM_138778.5
p.Q117*
c.349C>T
1 paper
NM_138778.5
p.E131Q
c.391G>C
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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."