Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.E191K

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.E191K
c.571G>A
Surrounding Variants
1 paper
NM_152443.3
p.E191delFs
c.571delG
2 papers
NM_152443.3
p.K192E
c.574A>G
1 paper
NM_152443.3
p.Q189K
c.565C>A
8 papers
NM_152443.3
p.Q189*
c.565C>T
2 papers
NM_152443.3
p.R193C
c.577C>T
1 paper
NM_152443.3
p.R193H
c.578G>A
1 paper
NM_152443.3
p.R193R
c.579C>T
1 paper
NM_152443.3
p.D187G
c.560A>G
11 papers
NM_152443.3
p.Y194*
c.582C>A
11 papers
NM_152443.3
p.Y194*
c.582C>G
3 papers
NM_152443.3
p.D187N
c.559G>A
1 paper
NM_152443.3
p.H186H
c.558C>T
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