Varaico: Literature-Extracted Genetic Variants

Gene:DOHH
Variant:p.E241A

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
2 papers
NM_001145165.2
p.E241A
c.722A>C
Surrounding Variants
1 paper
NM_001145165.2
p.H240N
c.718C>A
1 paper
NM_001145165.2
p.E244A
c.731A>C
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.L246R
c.737T>G
1 paper
NM_001145165.2
p.G247A
c.740G>C
1 paper
NM_001145165.2
p.E234A
c.701A>C
2 papers
NM_001145165.2
p.I249T
c.746T>C
1 paper
NM_001145165.2
p.C232S
c.695G>C
1 paper
NM_001145165.2
p.C232S
c.694T>A
1 paper
NM_001145165.2
p.R251Q
c.752G>A
1 paper
NM_001145165.2
p.E219fs
c.655_656fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."