Varaico: Literature-Extracted Genetic Variants

Gene:DPH5
Variant:p.R207*

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
3 papers
NM_015958.3
p.R207*
c.619C>T
Surrounding Variants
1 paper
NM_015958.3
p.R207Q
c.620G>A
2 papers
NM_015958.3
p.R186W
c.556C>T
1 paper
NM_015958.3
p.R179K
c.536G>A
1 paper
NM_015958.3
p.C219S
c.655T>A
1 paper
NM_015958.3
p.C219S
c.656G>C
1 paper
NM_015958.3
p.V220F
c.658G>T
1 paper
NM_015958.3
p.G221C
c.661G>T
1 paper
NM_015958.3
p.A234P
c.700G>C
2 papers
NM_015958.3
p.H260R
c.779A>G
1 paper
NM_015958.3
p.S271F
c.812C>T
1 paper
NM_015958.3
p.N174fs
c.520_521fs
3 papers
NM_015958.3
p.N174insFs
c.521dupA
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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."