Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.T264S

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.T264S
c.791C>G
Surrounding Variants
1 paper
NM_152443.3
p.T264P
c.790A>C
1 paper
NM_152443.3
p.S265_L266delFs
c.793_796del4
2 papers
NM_152443.3
p.S265R
c.793A>C
1 paper
NM_152443.3
p.S265fs
c.793_794fs
1 paper
NM_152443.3
p.Q263P
c.788A>C
2 papers
NM_152443.3
p.S265R
c.795C>A
2 papers
NM_152443.3
p.S265R
c.795C>G
1 paper
NM_152443.3
p.Q263fs
c.787_788fs
2 papers
NM_152443.3
p.Q263insFs
c.787_788dupCA
1 paper
NM_152443.3
p.A262E
c.785C>A
2 papers
NM_152443.3
p.A262G
c.785C>G
1 paper
NM_152443.3
p.A262T
c.784G>A
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