Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.G181V

RDH5

199 papers

RefSeq Summary

This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinalde...

Pfam Domains

adh_shortaa 29–221UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

retinol dehydrogenase 5

HGNC Alias Symbols

HSD17B9; SDR9C5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002905.5
p.G181V
c.542G>T
Surrounding Variants
6 papers
NM_002905.5
p.K179R
c.536A>G
1 paper
NM_002905.5
p.F185L
c.553T>C
1 paper
NM_002905.5
p.S186insFs
c.557_558dupCT
1 paper
NM_002905.5
p.F185S
c.554T>C
9 papers
NM_002905.5
p.V177G
c.530T>G
1 paper
NM_002905.5
p.D187delins
c.559_560delinsAA
1 paper
NM_002905.5
p.D187H
c.559G>C
5 papers
NM_002905.5
p.Y175F
c.524A>T
1 paper
NM_002905.5
p.Y175del1
c.523_524delTAC
1 paper
NM_002905.5
p.G173A
c.518G>C
1 paper
NM_002905.5
p.G172D
c.515G>A
11 papers
NM_002905.5
p.R167H
c.500G>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."