Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.T224I

RDH12

339 papers

RefSeq Summary

The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-c...

Pfam Domains

adh_shortaa 40–243UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

retinol dehydrogenase 12

HGNC Alias Symbols

FLJ30273; SDR7C2; LCA13; RP53

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_152443.3
p.T224I
c.671C>T
Surrounding Variants
1 paper
NM_152443.3
p.T224fs
c.670_671fs
1 paper
NM_152443.3
p.V223Fs
c.669delinsCTFs
1 paper
NM_152443.3
p.V223insFs
c.668_669ins25
1 paper
NM_152443.3
p.V223insFs
c.668dupT
3 papers
NM_152443.3
p.V223F
c.667G>T
1 paper
NM_152443.3
p.V223_T224delFs
c.668_671del4
1 paper
NM_152443.3
p.Y226insFs
c.677dupA
1 paper
NM_152443.3
p.Y226fs
c.676_677fs
22 papers
NM_152443.3
p.Y226C
c.677A>G
1 paper
NM_152443.3
p.G222R
c.664G>A
1 paper
NM_152443.3
p.G222R
c.664G>C
4 papers
NM_152443.3
p.A227fs
c.679_680fs
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