Varaico: Literature-Extracted Genetic Variants

Gene:DOHH
Variant:p.N184K

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.N184K
c.552C>A
Surrounding Variants
2 papers
NM_001145165.2
p.N184K
c.552C>G
1 paper
NM_001145165.2
p.A178T
c.532G>A
1 paper
NM_001145165.2
p.R162W
c.484C>T
2 papers
NM_001145165.2
p.P152L
c.455C>T
1 paper
NM_001145165.2
p.P149A
c.445C>G
1 paper
NM_001145165.2
p.D148A
c.443A>C
1 paper
NM_001145165.2
p.A141A
c.423G>A
1 paper
NM_001145165.2
p.T121A
c.361A>G
1 paper
NM_001145165.2
p.E120A
c.359A>C
1 paper
NM_001145165.2
p.E208Q
c.622G>C
2 papers
NM_001145165.2
p.E208A
c.623A>C
1 paper
NM_001145165.2
p.E208D
c.624G>T
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