Varaico: Literature-Extracted Genetic Variants

Gene:DPH6

DPH6

25 papers

Pfam Domains

Diphthami_syn_2_Naa 1–137UCSCDiphthamide synthase N-terminal domain
Diphthami_syn_2_Naa 1–137UCSCDiphthamide synthase N-terminal domain
Diphthami_syn_2_Caa 145–239UCSCDiphthamide synthase C-terminal domain

Gene Aliases

HGNC Name

diphthamine biosynthesis 6

HGNC Previous Symbol

ATPBD4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
2 papers
NM_080650.4
p.P236R
c.707C>G
1 paper
NM_080650.4
p.R2T
c.5G>C
1 paper
NM_080650.4
p.C14Y
c.41G>A
1 paper
NM_080650.4
p.G24R
c.70G>C
1 paper
NM_080650.4
p.G24R
c.70G>A
1 paper
NM_080650.4
p.G24G
c.72G>C
1 paper
NM_080650.4
p.Q26*
c.76C>T
1 paper
NM_080650.4
p.V28I
c.82G>A
1 paper
NM_080650.4
p.G41A
c.122G>C
1 paper
NM_080650.4
p.L45Q
c.134T>A
1 paper
NM_080650.4
p.D46H
c.136G>C
1 paper
NM_080650.4
p.D46N
c.136G>A
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