Varaico: Literature-Extracted Genetic Variants

Gene:DPH6
Variant:p.R241H

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
Selected Variant
1 paper
NM_080650.4
p.R241H
c.722G>A
Surrounding Variants
1 paper
NM_080650.4
p.L245F
c.735G>T
1 paper
NM_080650.4
p.L245F
c.735G>C
1 paper
NM_080650.4
p.P236L
c.707C>T
2 papers
NM_080650.4
p.P236R
c.707C>G
1 paper
NM_080650.4
p.G202G
c.606T>G
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