Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.H179R

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.H179R
c.536A>G
Surrounding Variants
6 papers
NM_152443.3
p.H179D
c.535C>G
1 paper
NM_152443.3
p.G181S
c.541G>A
1 paper
NM_152443.3
p.A177V
c.530C>T
2 papers
NM_152443.3
p.G181D
c.542G>A
1 paper
NM_152443.3
p.A177P
c.529G>C
1 paper
NM_152443.3
p.K182R
c.545A>G
1 paper
NM_152443.3
p.K182N
c.546G>C
1 paper
NM_152443.3
p.K182N
c.546G>T
20 papers
NM_152443.3
p.S175L
c.524C>T
1 paper
NM_152443.3
p.I183N
c.548T>A
12 papers
NM_152443.3
p.S175P
c.523T>C
1 paper
NM_152443.3
p.S175insFs
c.524dupC
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