Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.R161W

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
12 papers
NM_152443.3
p.R161W
c.481C>T
Surrounding Variants
17 papers
NM_152443.3
p.R161Q
c.482G>A
1 paper
NM_152443.3
p.E160D
c.480G>C
1 paper
NM_152443.3
p.L162P
c.485T>C
1 paper
NM_152443.3
p.L159_E160insTAA
c.475_479ins9
1 paper
NM_152443.3
p.L158L
c.474C>T
1 paper
NM_152443.3
p.L158R
c.473T>G
1 paper
NM_152443.3
p.V164M
c.490G>A
1 paper
NM_152443.3
p.L157V
c.469C>G
2 papers
NM_152443.3
p.S165_P167delFs
c.495_499del5
2 papers
NM_152443.3
p.Y156*
c.468C>A
2 papers
NM_152443.3
p.Y156*
c.468C>G
1 paper
NM_152443.3
p.A166delFs
c.498delC
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