Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.L290_W291insFs

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.L290_W291insFs
c.870_871dupCT
Surrounding Variants
1 paper
NM_002905.5
p.L290F
c.868C>T
1 paper
NM_002905.5
p.L292L
c.874C>T
1 paper
NM_002905.5
p.A287S
c.859G>T
1 paper
NM_002905.5
p.D286fs
c.856_857fs
1 paper
NM_002905.5
p.W285*
c.854G>A
10 papers
NM_002905.5
p.A294P
c.880G>C
1 paper
NM_002905.5
p.W285delFs
c.855delG
1 paper
NM_002905.5
p.S295F
c.884C>T
1 paper
NM_002905.5
p.P283insFs
c.848_849insAT
11 papers
NM_002905.5
p.Y281H
c.841T>C
29 papers
NM_002905.5
p.R280H
c.839G>A
3 papers
NM_002905.5
p.R280S
c.838C>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."