Varaico: Literature-Extracted Genetic Variants

Gene:HPGD
Variant:p.L104delFs

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
18 papers
NM_000860.6
p.L104delFs
c.310_311delAG
Surrounding Variants
1 paper
NM_000860.6
p.L104fs
c.310_311fs
2 papers
NM_000860.6
p.Q105*
c.313C>T
6 papers
NM_000860.6
p.L104fs
c.310_311fs
1 paper
NM_000860.6
p.I106N
c.317T>A
3 papers
NM_000860.6
p.L108_V109Splc
c.324+5G>A
1 paper
NM_000860.6
p.G93E
c.278G>A
1 paper
NM_000860.6
p.N91D
c.271A>G
1 paper
NM_000860.6
p.D86E
c.258C>G
1 paper
NM_000860.6
p.D86E
c.258C>A
1 paper
NM_000860.6
p.D86N
c.256G>A
4 papers
NM_000860.6
p.V78_H81Fs
c.232_241delinsCAFs
1 paper
NM_000860.6
p.D73Splc
c.218-1G>A
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