Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.A294G

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.A294G
c.881C>G
Surrounding Variants
23 papers
NM_152443.3
p.R295*
c.883C>T
1 paper
NM_152443.3
p.N296insFs
c.886dupA
1 paper
NM_152443.3
p.R295delFs
c.885delA
2 papers
NM_152443.3
p.P292Q
c.875C>A
1 paper
NM_152443.3
p.P292R
c.875C>G
1 paper
NM_152443.3
p.P292T
c.874C>A
1 paper
NM_152443.3
p.P292S
c.874C>T
1 paper
NM_152443.3
p.N296K
c.888T>A
1 paper
NM_152443.3
p.N296K
c.888T>G
1 paper
NM_152443.3
p.N297H
c.889A>C
4 papers
NM_152443.3
p.S291F
c.872C>T
6 papers
NM_152443.3
p.V290G
c.869T>G
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