Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.I117T

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.I117T
c.350T>C
Surrounding Variants
1 paper
NM_002905.5
p.I117N
c.350T>A
6 papers
NM_002905.5
p.G116R
c.346G>C
4 papers
NM_002905.5
p.G116ins1
c.346_347insGCA
2 papers
NM_002905.5
p.G119R
c.355G>A
2 papers
NM_002905.5
p.G119R
c.355G>C
1 paper
NM_002905.5
p.A115A
c.345T>A
1 paper
NM_002905.5
p.G113D
c.338G>A
1 paper
NM_002905.5
p.L124insFs
c.371dupT
1 paper
NM_002905.5
p.L124L
c.370C>T
1 paper
NM_002905.5
p.V109L
c.325G>C
16 papers
NM_002905.5
p.G107R
c.319G>C
16 papers
NM_002905.5
p.D128N
c.382G>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."