Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.S63delFs

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.S63delFs
c.189delC
Surrounding Variants
1 paper
NM_002905.5
p.G64R
c.190G>A
4 papers
NM_002905.5
p.C59S
c.176G>C
5 papers
NM_002905.5
p.C59S
c.175T>A
1 paper
NM_002905.5
p.C59delFs
c.175delT
4 papers
NM_002905.5
p.A72insFs
c.214_215ins4
1 paper
NM_002905.5
p.R70G
c.208C>G
4 papers
NM_002905.5
p.R70W
c.208C>T
4 papers
NM_002905.5
p.V71_S74del4
c.211_221del12
2 papers
NM_002905.5
p.V71fs
c.211_212fs
1 paper
NM_002905.5
p.R54Q
c.161G>A
12 papers
NM_002905.5
p.R54*
c.160C>T
1 paper
NM_002905.5
p.A72fs
c.214_215fs
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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."