Varaico: Literature-Extracted Genetic Variants

Gene:RDH5

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
1–12 of 218 variants
41 papers
NM_002905.5
p.G238W
c.712G>T
29 papers
NM_002905.5
p.R280H
c.839G>A
18 papers
NM_002905.5
p.G35S
c.103G>A
16 papers
NM_002905.5
p.S73F
c.218C>T
16 papers
NM_002905.5
p.G107R
c.319G>C
16 papers
NM_002905.5
p.D128N
c.382G>A
14 papers
NM_002905.5
p.L310delins
c.928delinsGAAG
12 papers
NM_002905.5
p.R54*
c.160C>T
12 papers
NM_002905.5
p.V132M
c.394G>A
12 papers
NM_002905.5
p.R157W
c.469C>T
11 papers
NM_002905.5
p.R157Q
c.470G>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."