Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.V132M

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
12 papers
NM_002905.5
p.V132M
c.394G>A
Surrounding Variants
1 paper
NM_002905.5
p.Q130*
c.388C>T
1 paper
NM_002905.5
p.N134T
c.401A>C
16 papers
NM_002905.5
p.D128N
c.382G>A
1 paper
NM_002905.5
p.D128delFs
c.383delA
2 papers
NM_002905.5
p.M138delFs
c.412delA
2 papers
NM_002905.5
p.M138fs
c.412_413fs
2 papers
NM_002905.5
p.M138R
c.413T>G
1 paper
NM_002905.5
p.G139delFs
c.416delG
1 paper
NM_002905.5
p.G139fs
c.415_416fs
7 papers
NM_002905.5
p.G139V
c.416G>T
1 paper
NM_002905.5
p.L124insFs
c.371dupT
1 paper
NM_002905.5
p.L124L
c.370C>T
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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."