Varaico: Literature-Extracted Genetic Variants

Gene:HPGD
Variant:p.E40delFs

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
5 papers
NM_000860.6
p.E40delFs
c.120delT
Surrounding Variants
1 paper
NM_000860.6
p.A41delFs
c.122delG
4 papers
NM_000860.6
p.E40*
c.118G>T
1 paper
NM_000860.6
p.V43_Q44insFs
c.129_130insC
1 paper
NM_000860.6
p.W37R
c.109T>C
1 paper
NM_000860.6
p.W37R
c.109T>A
1 paper
NM_000860.6
p.D36A
c.107A>C
1 paper
NM_000860.6
p.L34P
c.101T>C
1 paper
NM_000860.6
p.A33P
c.97G>C
2 papers
NM_000860.6
p.Q52Q
c.156G>A
1 paper
NM_000860.6
p.P55S
c.163C>T
2 papers
NM_000860.6
p.L59fs
c.175_176fs
2 papers
NM_000860.6
p.L59fs
c.175_176fs
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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."