Varaico: Literature-Extracted Genetic Variants

Gene:DOHH
Variant:p.R251Q

DOHH

43 papers

RefSeq Summary

This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyh...

Pfam Domains

HEAT_2aa 7–84UCSCHEAT repeats
HEAT_2aa 40–127UCSCHEAT repeats
HEAT_2aa 191–278UCSCHEAT repeats

Gene Aliases

HGNC Name

deoxyhypusine hydroxylase

HGNC Previous Symbol

HLRC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145165.2
p.R251Q
c.752G>A
Surrounding Variants
2 papers
NM_001145165.2
p.I249T
c.746T>C
1 paper
NM_001145165.2
p.G247A
c.740G>C
1 paper
NM_001145165.2
p.L246R
c.737T>G
1 paper
NM_001145165.2
p.E244A
c.731A>C
2 papers
NM_001145165.2
p.E241A
c.722A>C
1 paper
NM_001145165.2
p.H240N
c.718C>A
1 paper
NM_001145165.2
p.M237L
c.709A>T
1 paper
NM_001145165.2
p.M237L
c.709A>C
1 paper
NM_001145165.2
p.R267C
c.799C>T
1 paper
NM_001145165.2
p.E234A
c.701A>C
1 paper
NM_001145165.2
p.V269L
c.805G>T
1 paper
NM_001145165.2
p.V269L
c.805G>C
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