Varaico: Literature-Extracted Genetic Variants

Gene:DPH1
Variant:p.K38N

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.K38N
c.114G>T
Surrounding Variants
1 paper
NM_001383.6
p.K38N
c.114G>C
1 paper
NM_001383.6
p.N39K
c.117C>G
1 paper
NM_001383.6
p.Q41*
c.121C>T
2 papers
NM_001383.6
p.Q43P
c.128A>C
1 paper
NM_001383.6
p.A44A
c.132A>T
1 paper
NM_001383.6
p.R27C
c.79C>T
1 paper
NM_001383.6
p.A23T
c.67G>A
1 paper
NM_001383.6
p.L74delFs
c.222delG
1 paper
NM_001383.6
p.L91delFs
c.273delG
1 paper
NM_001383.6
p.E92fs
c.274_275fs
1 paper
NM_001383.6
p.R93K
c.278G>A
4 papers
NM_001383.6
p.E96delFs
c.288delG
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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."