Varaico: Literature-Extracted Genetic Variants

Gene:DHPS
Variant:p.E180delFs

DHPS

140 papers

RefSeq Summary

This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation fact...

Pfam Domains

DSaa 44–354UCSCDeoxyhypusine synthase

Gene Aliases

HGNC Name

deoxyhypusine synthase

HGNC Alias Symbol

MIG13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001930.4
p.E180delFs
c.538delC
Surrounding Variants
1 paper
NM_001930.4
p.E180A
c.539A>C
1 paper
NM_001930.4
p.C177_W182del0
c.529_546del18
1 paper
NM_001930.4
p.N175_L183ins3
c.524_547dup24
1 paper
NM_001930.4
p.E174D
c.522G>T
1 paper
NM_001930.4
p.E174D
c.522G>C
1 paper
NM_001930.4
p.N173K
c.519T>G
1 paper
NM_001930.4
p.N173K
c.519T>A
12 papers
NM_001930.4
p.N173S
c.518A>G
1 paper
NM_001930.4
p.Q194L
c.581A>T
27 papers
NM_001930.4
p.Q194R
c.581A>G
1 paper
NM_001930.4
p.N195D
c.583A>G
1 paper
NM_001930.4
p.N164D
c.490A>G
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