Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.G46G

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.G46G
c.138C>T
Surrounding Variants
1 paper
NM_152443.3
p.A47delFs
c.139delG
22 papers
NM_152443.3
p.A47T
c.139G>A
1 paper
NM_152443.3
p.G46D
c.137G>A
1 paper
NM_152443.3
p.G46V
c.137G>T
1 paper
NM_152443.3
p.G46C
c.136G>T
1 paper
NM_152443.3
p.N48D
c.142A>G
1 paper
NM_152443.3
p.T45N
c.134C>A
7 papers
NM_152443.3
p.T45A
c.133A>G
1 paper
NM_152443.3
p.T45fs
c.133_134fs
1 paper
NM_152443.3
p.N48K
c.144C>A
1 paper
NM_152443.3
p.T45insFs
c.133dupA
1 paper
NM_152443.3
p.N48K
c.144C>G
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