Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.R234fs

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.R234fs
c.700_701fs
Surrounding Variants
4 papers
NM_152443.3
p.R234C
c.700C>T
25 papers
NM_152443.3
p.R234H
c.701G>A
13 papers
NM_152443.3
p.V233D
c.698T>A
3 papers
NM_152443.3
p.V233delins
c.698_699delinsAA
3 papers
NM_152443.3
p.V233I
c.697G>A
10 papers
NM_152443.3
p.V233L
c.697G>C
4 papers
NM_152443.3
p.V233F
c.697G>T
4 papers
NM_152443.3
p.V233insFs
c.698_699insGT
1 paper
NM_152443.3
p.V232G
c.695T>G
1 paper
NM_152443.3
p.V233_S242del10
c.697_725del30
2 papers
NM_152443.3
p.G231D
c.692G>A
3 papers
NM_152443.3
p.L237P
c.710T>C
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