Varaico: Literature-Extracted Genetic Variants

Gene:DPH7
Variant:p.S247R

DPH7

26 papers

RefSeq Summary

Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is...

Pfam Domains

WD40aa 229–268UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

diphthamide biosynthesis 7

HGNC Previous Symbols

C9orf112; WDR85

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138778.5
p.S247R
c.741C>G
Surrounding Variants
1 paper
NM_138778.5
p.S247R
c.741C>A
1 paper
NM_138778.5
p.S247R
c.739A>C
1 paper
NM_138778.5
p.G241C
c.721G>T
1 paper
NM_138778.5
p.P275L
c.824C>T
1 paper
NM_138778.5
p.E317Splc
c.949+3G>A
1 paper
NM_138778.5
p.T323M
c.968C>T
1 paper
NM_138778.5
p.Y336C
c.1007A>G
1 paper
NM_138778.5
p.A193T
c.577G>A
1 paper
NM_138778.5
p.D339N
c.1015G>A
2 papers
NM_138778.5
p.R350Q
c.1049G>A
1 paper
NM_138778.5
p.E180D
c.540G>T
1 paper
NM_138778.5
p.E180D
c.540G>C
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