Varaico: Literature-Extracted Genetic Variants

Gene:DOHH

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
1–12 of 67 variants
3 papers
NM_001145165.2
p.E57A
c.170A>C
2 papers
NM_001145165.2
p.R24L
c.71G>T
2 papers
NM_001145165.2
p.Q64E
c.190C>G
2 papers
NM_001145165.2
p.V77M
c.229G>A
2 papers
NM_001145165.2
p.E90A
c.269A>C
2 papers
NM_001145165.2
p.P152L
c.455C>T
2 papers
NM_001145165.2
p.N184K
c.552C>G
2 papers
NM_001145165.2
p.N184K
c.552C>A
2 papers
NM_001145165.2
p.E208A
c.623A>C
2 papers
NM_001145165.2
p.H218_E219insFs
c.654_655ins4
2 papers
NM_001145165.2
p.E241A
c.722A>C
2 papers
NM_001145165.2
p.I249T
c.746T>C
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."