Varaico: Literature-Extracted Genetic Variants

Gene:DHRS9
Variant:p.L138L

DHRS9

72 papers

RefSeq Summary

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically ...

Pfam Domains

adh_shortaa 30–221UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

dehydrogenase/reductase 9

HGNC Alias Symbols

RDHL; 3alpha-HSD; RETSDR8; RDH15; SDR9C4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001376924.1
p.L138L
c.412C>T
Surrounding Variants
1 paper
NM_001376924.1
p.E135K
c.403G>A
3 papers
NM_001376924.1
p.P133R
c.398C>G
1 paper
NM_001376924.1
p.S143N
c.428G>A
1 paper
NM_001376924.1
p.S143_V144Fs
c.429_432delinsGGTFs
1 paper
NM_001376924.1
p.T145R
c.434C>G
3 papers
NM_001376924.1
p.L106F
c.316C>T
1 paper
NM_001376924.1
p.I171I
c.513C>T
1 paper
NM_001376924.1
p.G185D
c.554G>A
1 paper
NM_001376924.1
p.G105R
c.313G>C
1 paper
NM_001376924.1
p.V101I
c.301G>A
1 paper
NM_001376924.1
p.Q100K
c.298C>A
1 paper
NM_001376924.1
p.L81F
c.241C>T
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