Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.A199P

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
3 papers
NM_152443.3
p.A199P
c.595G>C
Surrounding Variants
2 papers
NM_152443.3
p.A199A
c.597C>A
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
3 papers
NM_152443.3
p.C201delFs
c.601delT
1 paper
NM_152443.3
p.G197_A199delFs
c.591_597del7
15 papers
NM_152443.3
p.C201R
c.601T>C
1 paper
NM_152443.3
p.C201fs
c.601_602fs
1 paper
NM_152443.3
p.C201Fs
c.603delinsCTFs
1 paper
NM_152443.3
p.R196W
c.586A>T
1 paper
NM_152443.3
p.H202Q
c.606C>A
12 papers
NM_152443.3
p.S203R
c.607A>C
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