Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.P230delins

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
4 papers
NM_002905.5
p.P230delins
c.689_690delinsGG
Surrounding Variants
5 papers
NM_002905.5
p.P230R
c.689C>G
2 papers
NM_002905.5
p.P230L
c.689C>T
1 paper
NM_002905.5
p.P230A
c.688C>G
1 paper
NM_002905.5
p.A232_F241delFs
c.694_722del29
2 papers
NM_002905.5
p.R228Q
c.683G>A
1 paper
NM_002905.5
p.Q234*
c.700C>T
1 paper
NM_002905.5
p.W226*
c.678G>A
1 paper
NM_002905.5
p.W226*
c.677G>A
1 paper
NM_002905.5
p.H236_Y237insG
c.706_710ins3
1 paper
NM_002905.5
p.A224V
c.671C>T
2 papers
NM_002905.5
p.Y237fs
c.709_710fs
6 papers
NM_002905.5
p.Y237S
c.710A>C
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