Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.Y156*

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.Y156*
c.468C>G
Surrounding Variants
2 papers
NM_152443.3
p.Y156*
c.468C>A
1 paper
NM_152443.3
p.L157V
c.469C>G
1 paper
NM_152443.3
p.T155N
c.464C>A
32 papers
NM_152443.3
p.T155I
c.464C>T
1 paper
NM_152443.3
p.L158R
c.473T>G
1 paper
NM_152443.3
p.T155_Y156insFs
c.465_468dup4
1 paper
NM_152443.3
p.L158L
c.474C>T
1 paper
NM_152443.3
p.L159_E160insTAA
c.475_479ins9
1 paper
NM_152443.3
p.L154_T155del1
c.461_463delTCA
1 paper
NM_152443.3
p.L153V
c.457C>G
1 paper
NM_152443.3
p.F152L
c.456C>A
1 paper
NM_152443.3
p.F152L
c.456C>G
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