Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.H267P

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.H267P
c.800A>C
Surrounding Variants
1 paper
NM_152443.3
p.H267Y
c.799C>T
2 papers
NM_152443.3
p.C268F
c.803G>T
1 paper
NM_152443.3
p.A269del1
c.805_806delGCC
32 papers
NM_152443.3
p.A269_L270delFs
c.806_810del5
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.A269fs
c.805_806fs
21 papers
NM_152443.3
p.A269fs
c.805_806fs
9 papers
NM_152443.3
p.A269G
c.806C>G
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.T264S
c.791C>G
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