Varaico: Literature-Extracted Genetic Variants

Gene:RDH12

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
1–12 of 466 variants
53 papers
NM_152443.3
p.L99I
c.295C>A
47 papers
NM_152443.3
p.T49M
c.146C>T
32 papers
NM_152443.3
p.T155I
c.464C>T
32 papers
NM_152443.3
p.A269_L270delFs
c.806_810del5
30 papers
NM_152443.3
p.R62*
c.184C>T
29 papers
NM_152443.3
p.A126V
c.377C>T
26 papers
NM_152443.3
p.V146D
c.437T>A
25 papers
NM_152443.3
p.R234H
c.701G>A
24 papers
NM_152443.3
p.G127*
c.379G>T
23 papers
NM_152443.3
p.R295*
c.883C>T
22 papers
NM_152443.3
p.A47T
c.139G>A
22 papers
NM_152443.3
p.T55M
c.164C>T
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