Varaico: Literature-Extracted Genetic Variants

Gene:DHRS9
Variant:p.D50N

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
3 papers
NM_001376924.1
p.D50N
c.148G>A
Surrounding Variants
1 paper
NM_001376924.1
p.D50E
c.150T>A
1 paper
NM_001376924.1
p.D50E
c.150T>G
1 paper
NM_001376924.1
p.E63D
c.189A>C
1 paper
NM_001376924.1
p.E63D
c.189A>T
1 paper
NM_001376924.1
p.S64T
c.190T>A
1 paper
NM_001376924.1
p.S64P
c.190T>C
1 paper
NM_001376924.1
p.G65E
c.194G>A
1 paper
NM_001376924.1
p.Y31*
c.93C>A
1 paper
NM_001376924.1
p.Y31*
c.93C>G
2 papers
NM_001376924.1
p.K30K
c.90G>A
2 papers
NM_001376924.1
p.A71G
c.212C>G
1 paper
NM_001376924.1
p.D26D
c.78C>T
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