Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.R196W

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.R196W
c.586A>T
Surrounding Variants
11 papers
NM_152443.3
p.Y194*
c.582C>A
11 papers
NM_152443.3
p.Y194*
c.582C>G
1 paper
NM_152443.3
p.G197_A199delFs
c.591_597del7
1 paper
NM_152443.3
p.R193R
c.579C>T
1 paper
NM_152443.3
p.R193H
c.578G>A
2 papers
NM_152443.3
p.R193C
c.577C>T
3 papers
NM_152443.3
p.A199P
c.595G>C
2 papers
NM_152443.3
p.A199A
c.597C>A
2 papers
NM_152443.3
p.K192E
c.574A>G
3 papers
NM_152443.3
p.Y200H
c.598T>C
1 paper
NM_152443.3
p.Y200S
c.599A>C
7 papers
NM_152443.3
p.Y200C
c.599A>G
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