Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.C31insFs

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.C31insFs
c.91_92insC
Surrounding Variants
2 papers
NM_152443.3
p.C31insFs
c.91dupT
1 paper
NM_152443.3
p.R32*
c.94A>T
1 paper
NM_152443.3
p.T33_N34ins16
c.97_101ins48
1 paper
NM_152443.3
p.G29R
c.85G>A
1 paper
NM_152443.3
p.G29R
c.85G>C
4 papers
NM_152443.3
p.T33_N34insFs
c.99_102dup4
1 paper
NM_152443.3
p.A27_G28insFs
c.81_82insA
1 paper
NM_152443.3
p.V35M
c.103G>A
1 paper
NM_152443.3
p.V35fs
c.103_104fs
3 papers
NM_152443.3
p.V35delFs
c.105delG
1 paper
NM_152443.3
p.F26S
c.77T>C
3 papers
NM_152443.3
p.Q36fs
c.106_107fs
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