Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.R302L

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.R302L
c.905G>T
Surrounding Variants
1 paper
NM_152443.3
p.R302P
c.905G>C
1 paper
NM_152443.3
p.R302_L303delFs
c.906_907delCC
6 papers
NM_152443.3
p.W304R
c.910T>A
6 papers
NM_152443.3
p.W304R
c.910T>C
1 paper
NM_152443.3
p.E301_S307delFs
c.901_919del19
5 papers
NM_152443.3
p.W304*
c.911G>A
4 papers
NM_152443.3
p.W304*
c.912G>A
1 paper
NM_152443.3
p.V306I
c.916G>A
1 paper
NM_152443.3
p.V306G
c.917T>G
1 paper
NM_152443.3
p.N297H
c.889A>C
1 paper
NM_152443.3
p.N296K
c.888T>A
1 paper
NM_152443.3
p.N296K
c.888T>G
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