Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.F210insFs

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.F210insFs
c.630dupT
Surrounding Variants
5 papers
NM_152443.3
p.V208E
c.623T>A
1 paper
NM_152443.3
p.F210S
c.629T>C
1 paper
NM_152443.3
p.V208insFs
c.623_624dupTG
15 papers
NM_152443.3
p.N207D
c.619A>G
1 paper
NM_152443.3
p.T211fs
c.631_632fs
1 paper
NM_152443.3
p.A206A
c.618C>G
2 papers
NM_152443.3
p.T211I
c.632C>T
8 papers
NM_152443.3
p.A206D
c.617C>A
2 papers
NM_152443.3
p.A206V
c.617C>T
1 paper
NM_152443.3
p.A206P
c.616G>C
1 paper
NM_152443.3
p.R212P
c.635G>C
1 paper
NM_152443.3
p.R212insFs
c.635_636insGC
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