Varaico: Literature-Extracted Genetic Variants

Gene:DPH5
Variant:p.V117V

DPH5

30 papers

RefSeq Summary

This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from...

Pfam Domains

TP_methylaseaa 1–241UCSCTetrapyrrole (Corrin/Porphyrin) Methylases

Gene Aliases

HGNC Name

diphthamide biosynthesis 5

HGNC Alias Symbol

CGI-30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015958.3
p.V117V
c.351A>G
Surrounding Variants
2 papers
NM_015958.3
p.N110S
c.329A>G
2 papers
NM_015958.3
p.L96fs
c.286_287fs
1 paper
NM_015958.3
p.L94I
c.280C>A
1 paper
NM_015958.3
p.G87R
c.259G>C
1 paper
NM_015958.3
p.G87R
c.259G>A
1 paper
NM_015958.3
p.D73E
c.219T>G
1 paper
NM_015958.3
p.D73E
c.219T>A
1 paper
NM_015958.3
p.E60*
c.178G>T
1 paper
NM_015958.3
p.D57G
c.170A>G
1 paper
NM_015958.3
p.R51delFs
c.151_152delCT
1 paper
NM_015958.3
p.G50E
c.149G>A
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