Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.P230R

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.P230R
c.689C>G
Surrounding Variants
1 paper
NM_152443.3
p.P230L
c.689C>T
6 papers
NM_152443.3
p.P230A
c.688C>G
3 papers
NM_152443.3
p.H229Q
c.687C>G
2 papers
NM_152443.3
p.G231D
c.692G>A
1 paper
NM_152443.3
p.V232G
c.695T>G
1 paper
NM_152443.3
p.V233_S242del10
c.697_725del30
4 papers
NM_152443.3
p.V233insFs
c.698_699insGT
1 paper
NM_152443.3
p.V228L
c.682G>T
3 papers
NM_152443.3
p.V233I
c.697G>A
10 papers
NM_152443.3
p.V233L
c.697G>C
4 papers
NM_152443.3
p.V233F
c.697G>T
1 paper
NM_152443.3
p.A227V
c.680C>T
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