Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.L246_R249del0

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.L246_R249del0
c.738_746del9
Surrounding Variants
1 paper
NM_152443.3
p.L246P
c.737T>C
3 papers
NM_152443.3
p.L247P
c.740T>C
1 paper
NM_152443.3
p.L244L
c.732C>A
2 papers
NM_152443.3
p.L244H
c.731T>A
1 paper
NM_152443.3
p.L244_C245delFs
c.732_733delCT
1 paper
NM_152443.3
p.R249P
c.746G>C
1 paper
NM_152443.3
p.R249L
c.746G>T
1 paper
NM_152443.3
p.L243Q
c.728T>A
1 paper
NM_152443.3
p.L250F
c.748C>T
6 papers
NM_152443.3
p.C245_W248del0
c.735_743del9
1 paper
NM_152443.3
p.L250P
c.749T>C
2 papers
NM_152443.3
p.P253insFs
c.759dupC
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