Varaico: Literature-Extracted Genetic Variants

Gene:DPH5
Variant:p.D57G

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.D57G
c.170A>G
Surrounding Variants
1 paper
NM_015958.3
p.E60*
c.178G>T
1 paper
NM_015958.3
p.R51delFs
c.151_152delCT
1 paper
NM_015958.3
p.G50E
c.149G>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.A44delFs
c.132delG
1 paper
NM_015958.3
p.K42N
c.126G>T
1 paper
NM_015958.3
p.K42N
c.126G>C
1 paper
NM_015958.3
p.L38L
c.114A>T
1 paper
NM_015958.3
p.S27G
c.79A>G
1 paper
NM_015958.3
p.R25C
c.73C>T
1 paper
NM_015958.3
p.G87R
c.259G>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."