Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.S203R

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
12 papers
NM_152443.3
p.S203R
c.609C>G
Surrounding Variants
12 papers
NM_152443.3
p.S203R
c.609C>A
2 papers
NM_152443.3
p.K204Q
c.610A>C
12 papers
NM_152443.3
p.S203R
c.607A>C
1 paper
NM_152443.3
p.S203fs
c.607_608fs
1 paper
NM_152443.3
p.H202Q
c.606C>A
3 papers
NM_152443.3
p.L205_N207delFs
c.613_619del7
1 paper
NM_152443.3
p.L205V
c.613C>G
1 paper
NM_152443.3
p.C201Fs
c.603delinsCTFs
1 paper
NM_152443.3
p.A206P
c.616G>C
8 papers
NM_152443.3
p.A206D
c.617C>A
2 papers
NM_152443.3
p.A206V
c.617C>T
15 papers
NM_152443.3
p.C201R
c.601T>C
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