Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.V73G

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.V73G
c.218T>G
Surrounding Variants
1 paper
NM_152443.3
p.L74L
c.220C>T
3 papers
NM_152443.3
p.D72G
c.215A>G
1 paper
NM_152443.3
p.D72N
c.214G>A
1 paper
NM_152443.3
p.K75E
c.223A>G
1 paper
NM_152443.3
p.R71insFs
c.211_212insC
4 papers
NM_152443.3
p.R71fs
c.211_212fs
1 paper
NM_152443.3
p.K75N
c.225G>C
1 paper
NM_152443.3
p.K75N
c.225G>T
1 paper
NM_152443.3
p.R71_D72insFs
c.211_215dup5
17 papers
NM_152443.3
p.G76R
c.226G>A
17 papers
NM_152443.3
p.G76R
c.226G>C
4 papers
NM_152443.3
p.G76W
c.226G>T
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