Varaico: Literature-Extracted Genetic Variants

Gene:DPH3
Variant:p.E11A

DPH3

20 papers

RefSeq Summary

This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in...

Pfam Domains

Zn_ribbon_CSLaa 6–60UCSCCSL zinc finger

Gene Aliases

HGNC Name

diphthamide biosynthesis 3

HGNC Previous Symbol

ZCSL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_206831.3
p.E11A
c.32A>C
Surrounding Variants
1 paper
NM_206831.3
p.D12N
c.34G>A
1 paper
NM_206831.3
p.D6N
c.16G>A
1 paper
NM_206831.3
p.H5Y
c.13C>T
1 paper
NM_206831.3
p.Y24delins
c.71_72delinsTT
1 paper
NM_206831.3
p.C26S
c.76T>A
1 paper
NM_206831.3
p.C26S
c.77G>C
1 paper
NM_206831.3
p.P27S
c.79C>T
1 paper
NM_206831.3
p.C28S
c.82T>A
1 paper
NM_206831.3
p.C28S
c.83G>C
1 paper
NM_206831.3
p.I34N
c.101T>A
1 paper
NM_206831.3
p.I34I
c.102C>T
1 paper
NM_206831.3
p.N41Fs
c.121delinsTTFs
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