Varaico: Literature-Extracted Genetic Variants

Gene:DOHH
Variant:p.E208A

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.E208A
c.623A>C
Surrounding Variants
1 paper
NM_001145165.2
p.E208D
c.624G>T
1 paper
NM_001145165.2
p.E208D
c.624G>C
1 paper
NM_001145165.2
p.E208Q
c.622G>C
1 paper
NM_001145165.2
p.V212A
c.635T>C
1 paper
NM_001145165.2
p.G214A
c.641G>C
1 paper
NM_001145165.2
p.H218_E219insFs
c.654_655ins5
2 papers
NM_001145165.2
p.H218_E219insFs
c.654_655ins4
1 paper
NM_001145165.2
p.E219fs
c.655_656fs
1 paper
NM_001145165.2
p.E219fs
c.655_656fs
1 paper
NM_001145165.2
p.C232S
c.694T>A
1 paper
NM_001145165.2
p.C232S
c.695G>C
1 paper
NM_001145165.2
p.E234A
c.701A>C
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