Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.E272K

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.E272K
c.814G>A
Surrounding Variants
1 paper
NM_152443.3
p.A271fs
c.811_812fs
1 paper
NM_152443.3
p.A271delFs
c.812_813delCT
1 paper
NM_152443.3
p.L274M
c.820C>A
14 papers
NM_152443.3
p.L274P
c.821T>C
9 papers
NM_152443.3
p.A269G
c.806C>G
1 paper
NM_152443.3
p.A269fs
c.805_806fs
3 papers
NM_152443.3
p.E275*
c.823G>T
21 papers
NM_152443.3
p.A269fs
c.805_806fs
32 papers
NM_152443.3
p.A269_L270delFs
c.806_810del5
1 paper
NM_152443.3
p.E275D
c.825G>C
2 papers
NM_152443.3
p.C268F
c.803G>T
1 paper
NM_152443.3
p.E275D
c.825G>T
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