Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.A224V

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.A224V
c.671C>T
Surrounding Variants
2 papers
NM_002905.5
p.Q223P
c.668A>C
1 paper
NM_002905.5
p.W226*
c.677G>A
1 paper
NM_002905.5
p.L222P
c.665T>C
1 paper
NM_002905.5
p.W226*
c.678G>A
1 paper
NM_002905.5
p.K220R
c.659A>G
2 papers
NM_002905.5
p.R228Q
c.683G>A
1 paper
NM_002905.5
p.P230A
c.688C>G
5 papers
NM_002905.5
p.P230R
c.689C>G
2 papers
NM_002905.5
p.P230L
c.689C>T
4 papers
NM_002905.5
p.P230delins
c.689_690delinsGG
1 paper
NM_002905.5
p.A232_F241delFs
c.694_722del29
1 paper
NM_002905.5
p.E216G
c.647A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."