Varaico: Literature-Extracted Genetic Variants

Gene:DHRS12

DHRS12

22 papers

RefSeq Summary

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such a...

Pfam Domains

adh_shortaa 41–242UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

dehydrogenase/reductase 12

HGNC Alias Symbols

FLJ13639; SDR40C1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
2 papers
NM_001377533.1
p.L86F
c.256C>T
1 paper
NM_001377533.1
p.L3M
c.7C>A
1 paper
NM_001377533.1
p.T7A
c.19A>G
1 paper
NM_001377533.1
p.E20fs
c.58_59fs
1 paper
NM_001377533.1
p.E20delFs
c.59_60delCT
1 paper
NM_001377533.1
p.S24T
c.70T>A
1 paper
NM_001377533.1
p.E26G
c.77A>G
1 paper
NM_001377533.1
p.K59_F60del2
c.175_179del6
1 paper
NM_001377533.1
p.Q66*
c.196C>T
1 paper
NM_001377533.1
p.Q66R
c.197A>G
1 paper
NM_001377533.1
p.A77G
c.230C>G
1 paper
NM_001377533.1
p.A97T
c.289G>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."