Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.R239fs

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
2 papers
NM_152443.3
p.R239fs
c.715_716fs
Surrounding Variants
4 papers
NM_152443.3
p.R239G
c.715C>G
10 papers
NM_152443.3
p.R239W
c.715C>T
6 papers
NM_152443.3
p.R239Q
c.716G>A
6 papers
NM_152443.3
p.R239L
c.716G>T
6 papers
NM_152443.3
p.R239insFs
c.715dupC
1 paper
NM_152443.3
p.V238fs
c.712_713fs
4 papers
NM_152443.3
p.S241del1
c.721_723delTCC
3 papers
NM_152443.3
p.L237P
c.710T>C
1 paper
NM_152443.3
p.V238insFs
c.712dupG
6 papers
NM_152443.3
p.C245_W248del0
c.735_743del9
1 paper
NM_152443.3
p.L243Q
c.728T>A
25 papers
NM_152443.3
p.R234H
c.701G>A
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