Varaico: Literature-Extracted Genetic Variants

Gene:DPH2
Variant:p.A278A

DPH2

36 papers

RefSeq Summary

This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide b...

Pfam Domains

Diphthamide_synaa 54–375UCSCPutative diphthamide synthesis protein

Gene Aliases

HGNC Name

diphthamide biosynthesis 2

HGNC Previous Symbol

DPH2L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384.5
p.A278A
c.834C>A
Surrounding Variants
1 paper
NM_001384.5
p.R277K
c.830G>A
1 paper
NM_001384.5
p.A281V
c.842C>T
2 papers
NM_001384.5
p.R282C
c.844C>T
1 paper
NM_001384.5
p.R282H
c.845G>A
1 paper
NM_001384.5
p.G265R
c.793G>A
1 paper
NM_001384.5
p.G265R
c.793G>C
1 paper
NM_001384.5
p.A299E
c.896C>A
1 paper
NM_001384.5
p.L300P
c.899T>C
1 paper
NM_001384.5
p.K256N
c.768G>C
1 paper
NM_001384.5
p.K256N
c.768G>T
3 papers
NM_001384.5
p.Q308*
c.922C>T
1 paper
NM_001384.5
p.A309P
c.925G>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."