Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.M130delFs

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.M130delFs
c.389delT
Surrounding Variants
2 papers
NM_152443.3
p.M129I
c.387G>A
2 papers
NM_152443.3
p.M129I
c.387G>C
2 papers
NM_152443.3
p.M129I
c.387G>T
1 paper
NM_152443.3
p.C131_H143del13
c.391_428del39
1 paper
NM_152443.3
p.C131Y
c.392G>A
3 papers
NM_152443.3
p.V128A
c.383T>C
4 papers
NM_152443.3
p.V128G
c.383T>G
1 paper
NM_152443.3
p.V128_M129delFs
c.384_385delAA
1 paper
NM_152443.3
p.V128_C131delFs
c.383_392del10
3 papers
NM_152443.3
p.G127delFs
c.381delA
24 papers
NM_152443.3
p.G127*
c.379G>T
5 papers
NM_152443.3
p.A126E
c.377C>A
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