Varaico: Literature-Extracted Genetic Variants

Gene:DPH1
Variant:p.D113N

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.D113N
c.337G>A
Surrounding Variants
1 paper
NM_001383.6
p.D114N
c.340G>A
2 papers
NM_001383.6
p.A109G
c.326C>G
2 papers
NM_001383.6
p.L120P
c.359T>C
7 papers
NM_001383.6
p.L125S
c.374T>C
4 papers
NM_001383.6
p.E96delFs
c.288delG
1 paper
NM_001383.6
p.I134Splc
c.400+5G>T
1 paper
NM_001383.6
p.T157I
c.470C>T
1 paper
NM_001383.6
p.H158delFs
c.472delC
2 papers
NM_001383.6
p.S162F
c.485C>T
1 paper
NM_001383.6
p.L163V
c.487C>G
1 paper
NM_001383.6
p.L206L
c.616C>T
1 paper
NM_001383.6
p.A225D
c.674C>A
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