Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.G238W

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
41 papers
NM_002905.5
p.G238W
c.712G>T
Surrounding Variants
1 paper
NM_002905.5
p.G238R
c.712G>A
1 paper
NM_002905.5
p.G238R
c.712G>C
1 paper
NM_002905.5
p.G238A
c.713G>C
11 papers
NM_002905.5
p.A240insFs
c.718dupG
6 papers
NM_002905.5
p.G238delFs
c.712delG
6 papers
NM_002905.5
p.Y237S
c.710A>C
1 paper
NM_002905.5
p.Y237C
c.710A>G
2 papers
NM_002905.5
p.Y237fs
c.709_710fs
1 paper
NM_002905.5
p.H236_Y237insG
c.706_710ins3
9 papers
NM_002905.5
p.A240fs
c.718_719fs
2 papers
NM_002905.5
p.A240insFs
c.719_720insG
1 paper
NM_002905.5
p.F241S
c.722T>C
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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."