Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.V89I

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.V89I
c.265G>A
Surrounding Variants
2 papers
NM_002905.5
p.Q87*
c.259C>T
1 paper
NM_002905.5
p.Q91*
c.271C>T
1 paper
NM_002905.5
p.A93delFs
c.278delC
1 paper
NM_002905.5
p.K94insFs
c.281dupA
7 papers
NM_002905.5
p.W95*
c.284G>A
7 papers
NM_002905.5
p.W95*
c.285G>A
1 paper
NM_002905.5
p.D82insFs
c.245dupA
2 papers
NM_002905.5
p.L81_D82insA
c.241_245ins3
1 paper
NM_002905.5
p.M98T
c.293T>C
1 paper
NM_002905.5
p.T79insFs
c.236_237insG
1 paper
NM_002905.5
p.V100A
c.299T>C
1 paper
NM_002905.5
p.V100G
c.299T>G
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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."