Varaico: Literature-Extracted Genetic Variants

Gene:DPH2
Variant:p.C362S

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
2 papers
NM_001384.5
p.C362S
c.1084T>A
Surrounding Variants
1 paper
NM_001384.5
p.C362R
c.1084T>C
2 papers
NM_001384.5
p.C362S
c.1085G>C
1 paper
NM_001384.5
p.N369D
c.1105A>G
1 paper
NM_001384.5
p.G376C
c.1126G>T
1 paper
NM_001384.5
p.C341Y
c.1022G>A
1 paper
NM_001384.5
p.P322L
c.965C>T
1 paper
NM_001384.5
p.A309V
c.926C>T
1 paper
NM_001384.5
p.A309P
c.925G>C
3 papers
NM_001384.5
p.Q308*
c.922C>T
1 paper
NM_001384.5
p.L300P
c.899T>C
1 paper
NM_001384.5
p.A299E
c.896C>A
1 paper
NM_001384.5
p.R282H
c.845G>A
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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."