Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.L113M

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
2 papers
NM_152443.3
p.L113M
c.337C>A
Surrounding Variants
1 paper
NM_152443.3
p.L113P
c.338T>C
1 paper
NM_152443.3
p.L113insFs
c.339dupG
1 paper
NM_152443.3
p.G111G
c.333C>A
6 papers
NM_152443.3
p.E115Splc
c.343+1G>A
1 paper
NM_152443.3
p.A109insFs
c.326_327insT
8 papers
NM_152443.3
p.A109P
c.325G>C
1 paper
NM_152443.3
p.R106Q
c.317G>A
1 paper
NM_152443.3
p.R106R
c.316C>A
9 papers
NM_152443.3
p.R106*
c.316C>T
2 papers
NM_152443.3
p.I105M
c.315C>G
1 paper
NM_152443.3
p.R106_G111del6
c.316_332del18
1 paper
NM_152443.3
p.K103fs
c.307_308fs
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