Varaico: Literature-Extracted Genetic Variants

Gene:DPH1
Variant:p.G232D

DPH1

59 papers

RefSeq Summary

The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ...

Pfam Domains

Diphthamide_synaa 76–377UCSCPutative diphthamide synthesis protein

Gene Aliases

HGNC Name

diphthamide biosynthesis 1

HGNC Previous Symbols

DPH2L; DPH2L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001383.6
p.G232D
c.695G>A
Surrounding Variants
9 papers
NM_001383.6
p.F234S
c.701T>C
1 paper
NM_001383.6
p.G230R
c.688G>C
1 paper
NM_001383.6
p.E237Q
c.709G>C
1 paper
NM_001383.6
p.A242P
c.724G>C
1 paper
NM_001383.6
p.N243H
c.727A>C
1 paper
NM_001346576.2
p.P109R
c.326C>G
1 paper
NM_001383.6
p.R250Splc
c.749+39G>A
3 papers
NM_001383.6
p.S255I
c.764G>T
1 paper
NM_001383.6
p.R260insFs
c.779dupG
1 paper
NM_001383.6
p.H265_A271delFs
c.795_813del19
1 paper
NM_001383.6
p.R272C
c.814C>T
1 paper
NM_001346576.2
p.R172*
c.514C>T
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