Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.R95P

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.R95P
c.284G>C
Surrounding Variants
3 papers
NM_152443.3
p.R95Q
c.284G>A
1 paper
NM_152443.3
p.K96E
c.286A>G
12 papers
NM_152443.3
p.L93P
c.278T>C
1 paper
NM_152443.3
p.D98N
c.292G>A
1 paper
NM_152443.3
p.V92E
c.275T>A
53 papers
NM_152443.3
p.L99I
c.295C>A
1 paper
NM_152443.3
p.V92delFs
c.274delG
1 paper
NM_152443.3
p.Q91_V92insC
c.271_275ins3
1 paper
NM_152443.3
p.Q91*
c.271C>T
1 paper
NM_152443.3
p.S90delFs
c.269delC
1 paper
NM_152443.3
p.D101N
c.301G>A
4 papers
NM_152443.3
p.D101G
c.302A>G
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