Varaico: Literature-Extracted Genetic Variants

Gene:DPH2
Variant:p.Y218N

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.Y218N
c.652T>A
Surrounding Variants
1 paper
NM_001384.5
p.A216P
c.646G>C
2 papers
NM_001384.5
p.L234P
c.701T>C
3 papers
NM_001384.5
p.R201C
c.601C>T
1 paper
NM_001384.5
p.R198H
c.593G>A
1 paper
NM_001384.5
p.F247L
c.739T>C
1 paper
NM_001384.5
p.F247L
c.741C>A
1 paper
NM_001384.5
p.F247L
c.741C>G
1 paper
NM_001384.5
p.K256N
c.768G>C
1 paper
NM_001384.5
p.K256N
c.768G>T
1 paper
NM_001384.5
p.S179G
c.535A>G
1 paper
NM_001384.5
p.G265R
c.793G>A
1 paper
NM_001384.5
p.G265R
c.793G>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."