Varaico: Literature-Extracted Genetic Variants

Gene:DHRS1

DHRS1

28 papers

RefSeq Summary

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alter...

Pfam Domains

adh_shortaa 8–209UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

dehydrogenase/reductase 1

HGNC Alias Symbols

FLJ25430; MGC20204; SDR19C1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
2 papers
NM_001136050.3
p.E68K
c.202G>A
2 papers
NM_001136050.3
p.P193T
c.577C>A
1 paper
NM_001136050.3
p.M5T
c.14T>C
1 paper
NM_001136050.3
p.R17W
c.49A>T
1 paper
NM_001136050.3
p.G18D
c.53G>A
1 paper
NM_001136050.3
p.G20D
c.59G>A
1 paper
NM_001136050.3
p.R21H
c.62G>A
1 paper
NM_001136050.3
p.Q26H
c.78G>T
1 paper
NM_001136050.3
p.Q26H
c.78G>C
1 paper
NM_001136050.3
p.A32S
c.94G>T
1 paper
NM_001136050.3
p.T33T
c.99A>T
1 paper
NM_001136050.3
p.T37I
c.110C>T
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