Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.A168T

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.A168T
c.502G>A
Surrounding Variants
1 paper
NM_152443.3
p.A168E
c.503C>A
1 paper
NM_152443.3
p.A168V
c.503C>T
10 papers
NM_152443.3
p.R169G
c.505C>G
8 papers
NM_152443.3
p.R169W
c.505C>T
14 papers
NM_152443.3
p.R169Q
c.506G>A
2 papers
NM_152443.3
p.A166_R169del0
c.498_506del9
2 papers
NM_152443.3
p.R169R
c.507G>A
1 paper
NM_152443.3
p.A166delFs
c.498delC
2 papers
NM_152443.3
p.A166fs
c.496_497fs
2 papers
NM_152443.3
p.S165_P167delFs
c.495_499del5
1 paper
NM_152443.3
p.V164M
c.490G>A
1 paper
NM_152443.3
p.L162P
c.485T>C
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