Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.W2*

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
1 paper
NM_002905.5
p.W2*
c.5G>A
Surrounding Variants
1 paper
NM_002905.5
p.W2*
c.6G>A
1 paper
NM_002905.5
p.M1T
c.2T>C
6 papers
NM_002905.5
p.M1insFs
c.2dupT
1 paper
NM_002905.5
p.M1V
c.1A>G
1 paper
NM_002905.5
p.L5insFs
c.14_15insT
1 paper
NM_002905.5
p.L5ins1
c.14_15insTTT
1 paper
NM_002905.5
p.L5F
c.13C>T
1 paper
NM_002905.5
p.L11F
c.31C>T
1 paper
NM_002905.5
p.A13delFs
c.39delA
1 paper
NM_002905.5
p.L18fs
c.52_53fs
5 papers
NM_002905.5
p.R19G
c.55A>G
1 paper
NM_002905.5
p.R21W
c.61C>T
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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."