Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.A227V

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
1 paper
NM_152443.3
p.A227V
c.680C>T
Surrounding Variants
4 papers
NM_152443.3
p.A227_V228Fs
c.680_684delinsTFs
4 papers
NM_152443.3
p.A227fs
c.679_680fs
1 paper
NM_152443.3
p.V228L
c.682G>T
22 papers
NM_152443.3
p.Y226C
c.677A>G
1 paper
NM_152443.3
p.Y226insFs
c.677dupA
1 paper
NM_152443.3
p.Y226fs
c.676_677fs
3 papers
NM_152443.3
p.H229Q
c.687C>G
6 papers
NM_152443.3
p.P230A
c.688C>G
1 paper
NM_152443.3
p.P230R
c.689C>G
4 papers
NM_152443.3
p.T224I
c.671C>T
1 paper
NM_152443.3
p.P230L
c.689C>T
1 paper
NM_152443.3
p.T224fs
c.670_671fs
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