Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.G145R

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.G145R
c.433G>C
Surrounding Variants
5 papers
NM_152443.3
p.G145R
c.433G>A
4 papers
NM_152443.3
p.G145E
c.434G>A
4 papers
NM_152443.3
p.H143_L144Fs
c.429_432delinsGGTFs
26 papers
NM_152443.3
p.V146D
c.437T>A
1 paper
NM_152443.3
p.H143delFs
c.428delA
2 papers
NM_152443.3
p.H143fs
c.427_428fs
4 papers
NM_152443.3
p.N147T
c.440A>C
2 papers
NM_152443.3
p.H148N
c.442C>A
3 papers
NM_152443.3
p.H148Q
c.444C>A
2 papers
NM_152443.3
p.H148Q
c.444C>G
6 papers
NM_152443.3
p.L149P
c.446T>C
1 paper
NM_152443.3
p.L149_G150delFs
c.447_448delGG
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