Varaico: Literature-Extracted Genetic Variants

Gene:DPH3
Variant:p.P49L

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
3 papers
NM_206831.3
p.P49L
c.146C>T
Surrounding Variants
1 paper
NM_206831.3
p.C48S
c.143G>C
1 paper
NM_206831.3
p.C48S
c.142T>A
1 paper
NM_206831.3
p.S50S
c.150C>T
1 paper
NM_206831.3
p.S52F
c.155C>T
1 paper
NM_206831.3
p.N41Fs
c.121delinsTTFs
1 paper
NM_206831.3
p.D60N
c.178G>A
1 paper
NM_206831.3
p.I34I
c.102C>T
1 paper
NM_206831.3
p.I34N
c.101T>A
1 paper
NM_206831.3
p.C28S
c.83G>C
1 paper
NM_206831.3
p.C28S
c.82T>A
1 paper
NM_206831.3
p.P27S
c.79C>T
1 paper
NM_206831.3
p.C26S
c.77G>C
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