Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.L272delFs

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
2 papers
NM_002905.5
p.L272delFs
c.814_815delCT
Surrounding Variants
1 paper
NM_002905.5
p.L272fs
c.814_815fs
1 paper
NM_002905.5
p.H270delFs
c.808delC
4 papers
NM_002905.5
p.R275delFs
c.824_825delGA
4 papers
NM_002905.5
p.R275fs
c.823_824fs
2 papers
NM_002905.5
p.R275Q
c.824G>A
8 papers
NM_002905.5
p.C267W
c.801C>G
1 paper
NM_002905.5
p.C267Y
c.800G>A
1 paper
NM_002905.5
p.R266Fs
c.796_797delinsGAACTTFs
9 papers
NM_002905.5
p.R278*
c.832C>T
7 papers
NM_002905.5
p.R278Q
c.833G>A
8 papers
NM_002905.5
p.V264G
c.791T>G
1 paper
NM_002905.5
p.K263R
c.788A>G
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