Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.I51N

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
10 papers
NM_152443.3
p.I51N
c.152T>A
Surrounding Variants
2 papers
NM_152443.3
p.I51T
c.152T>C
1 paper
NM_152443.3
p.G52C
c.154G>T
6 papers
NM_152443.3
p.G50S
c.148G>A
4 papers
NM_152443.3
p.T49K
c.146C>A
47 papers
NM_152443.3
p.T49M
c.146C>T
1 paper
NM_152443.3
p.E54_T55insFs
c.162_163dupGA
1 paper
NM_152443.3
p.K53_E54ins1
c.159_160insTAA
1 paper
NM_152443.3
p.N48K
c.144C>A
1 paper
NM_152443.3
p.N48K
c.144C>G
1 paper
NM_152443.3
p.N48N
c.144C>T
1 paper
NM_152443.3
p.N48D
c.142A>G
1 paper
NM_152443.3
p.E54E
c.162G>A
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