Varaico: Literature-Extracted Genetic Variants

Gene:HPGD
Variant:p.N126D

HPGD

117 papers

RefSeq Summary

This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety...

Pfam Domains

adh_shortaa 6–148UCSCshort chain dehydrogenase
adh_shortaa 6–199UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

15-hydroxyprostaglandin dehydrogenase

HGNC Alias Symbol

SDR36C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000860.6
p.N126D
c.376A>G
Surrounding Variants
1 paper
NM_000860.6
p.G127*
c.379G>T
1 paper
NM_000860.6
p.E129_G130insC
c.385_389ins3
1 paper
NM_000860.6
p.L117delFs
c.349delG
2 papers
NM_000860.6
p.S138A
c.412T>G
14 papers
NM_000860.6
p.A140P
c.418G>C
2 papers
NM_000860.6
p.G141*
c.421G>T
2 papers
NM_000860.6
p.G141Splc
c.421+1G>T
4 papers
NM_000860.6
p.L108_V109Splc
c.325-1G>C
1 paper
NM_000860.6
p.G141Splc
c.421+7G>A
1 paper
NM_000860.6
p.L108_V109Splc
c.325-2A>T
1 paper
NM_000860.6
p.G141Splc
c.421+39C>T
3 papers
NM_000860.6
p.L108_V109Splc
c.324+5G>A
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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."