Varaico: Literature-Extracted Genetic Variants

Gene:DPH5

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
1–12 of 42 variants
3 papers
NM_015958.3
p.N174insFs
c.521dupA
3 papers
NM_015958.3
p.R207*
c.619C>T
2 papers
NM_015958.3
p.L96fs
c.286_287fs
2 papers
NM_015958.3
p.N110S
c.329A>G
2 papers
NM_015958.3
p.N174fs
c.520_521fs
2 papers
NM_015958.3
p.R186W
c.556C>T
2 papers
NM_015958.3
p.H260R
c.779A>G
1 paper
NM_015958.3
p.R25C
c.73C>T
1 paper
NM_015958.3
p.S27G
c.79A>G
1 paper
NM_015958.3
p.L38L
c.114A>T
1 paper
NM_015958.3
p.K42N
c.126G>T
1 paper
NM_015958.3
p.K42N
c.126G>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."