Varaico: Literature-Extracted Genetic Variants

Gene:DHRS9
Variant:p.D286H

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
11 papers
NM_001376924.1
p.D286H
c.856G>C
NM_001289763.2
p.D346H
c.1036G>C
Surrounding Variants
1 paper
NM_001376924.1
p.G284*
c.850G>T
1 paper
NM_001376924.1
p.A283T
c.847G>A
1 paper
NM_001376924.1
p.M268I
c.804G>T
1 paper
NM_001376924.1
p.L307fs
c.919_920fs
2 papers
NM_001376924.1
p.S262F
c.785C>T
1 paper
NM_001376924.1
p.S246Splc
c.737-1G>C
1 paper
NM_001376924.1
p.E244D
c.732A>C
1 paper
NM_001376924.1
p.E244D
c.732A>T
1 paper
NM_001376924.1
p.Q237H
c.711A>C
1 paper
NM_001376924.1
p.Q237H
c.711A>T
1 paper
NM_001376924.1
p.A225T
c.673G>A
1 paper
NM_001376924.1
p.L224fs
c.670_671fs
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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."