Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.N160_R167delFs

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.N160_R167delFs
c.479_501del23
Surrounding Variants
1 paper
NM_002905.5
p.I161delFs
c.481delA
1 paper
NM_002905.5
p.I161S
c.482T>G
11 papers
NM_002905.5
p.R157Q
c.470G>A
12 papers
NM_002905.5
p.R157W
c.469C>T
1 paper
NM_002905.5
p.G156R
c.466G>C
7 papers
NM_002905.5
p.V164F
c.490G>T
2 papers
NM_002905.5
p.R155Q
c.464G>A
2 papers
NM_002905.5
p.R155W
c.463C>T
11 papers
NM_002905.5
p.R167H
c.500G>A
1 paper
NM_002905.5
p.P149_R155ins2
c.445_465dup21
1 paper
NM_002905.5
p.G172D
c.515G>A
1 paper
NM_002905.5
p.G173A
c.518G>C
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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."