Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.A262T

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.A262T
c.784G>A
Surrounding Variants
6 papers
NM_152443.3
p.A262fs
c.784_785fs
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.G261G
c.783G>A
1 paper
NM_152443.3
p.G261G
c.783G>C
2 papers
NM_152443.3
p.Q263insFs
c.787_788dupCA
1 paper
NM_152443.3
p.Q263fs
c.787_788fs
3 papers
NM_152443.3
p.G261R
c.781G>A
3 papers
NM_152443.3
p.G261R
c.781G>C
1 paper
NM_152443.3
p.Q263P
c.788A>C
5 papers
NM_152443.3
p.A262insFs
c.784dupG
4 papers
NM_152443.3
p.A262delFs
c.784delG
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