Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.K40R

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.K40R
c.119A>G
Surrounding Variants
1 paper
NM_152443.3
p.V41insFs
c.121_122insG
1 paper
NM_152443.3
p.V41_V43del0
c.123_128del6
1 paper
NM_152443.3
p.V41I
c.121G>A
2 papers
NM_152443.3
p.V41L
c.121G>C
3 papers
NM_152443.3
p.V41L
c.121G>T
1 paper
NM_152443.3
p.V41fs
c.121_122fs
3 papers
NM_152443.3
p.V42A
c.125T>C
1 paper
NM_152443.3
p.P38S
c.112C>T
1 paper
NM_152443.3
p.I44_N48delFs
c.131_143del13
1 paper
NM_152443.3
p.T45insFs
c.133dupA
3 papers
NM_152443.3
p.Q36fs
c.106_107fs
7 papers
NM_152443.3
p.T45A
c.133A>G
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