Varaico: Literature-Extracted Genetic Variants

Gene:DOHH
Variant:p.H89Y

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.H89Y
c.265C>T
Surrounding Variants
2 papers
NM_001145165.2
p.E90A
c.269A>C
1 paper
NM_001145165.2
p.M86I
c.258G>T
1 paper
NM_001145165.2
p.M86I
c.258G>C
1 paper
NM_001145165.2
p.M86I
c.258G>A
1 paper
NM_001145165.2
p.L78M
c.232C>A
2 papers
NM_001145165.2
p.V77M
c.229G>A
1 paper
NM_001145165.2
p.V75M
c.223G>A
2 papers
NM_001145165.2
p.Q64E
c.190C>G
1 paper
NM_001145165.2
p.G63A
c.188G>C
1 paper
NM_001145165.2
p.E57D
c.171G>T
1 paper
NM_001145165.2
p.E57D
c.171G>C
3 papers
NM_001145165.2
p.E57A
c.170A>C
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