Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.L122delFs

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.L122delFs
c.364delC
Surrounding Variants
2 papers
NM_152443.3
p.I121T
c.362T>C
1 paper
NM_152443.3
p.I121_L122insG
c.361_365ins3
1 paper
NM_152443.3
p.I121insFs
c.361_362insT
1 paper
NM_152443.3
p.I123_V128del6
c.367_383del18
1 paper
NM_152443.3
p.N124_P132del0
c.371_394del24
1 paper
NM_152443.3
p.L119_H120delFs
c.356_359del4
9 papers
NM_152443.3
p.N125K
c.375T>A
9 papers
NM_152443.3
p.N125K
c.375T>G
1 paper
NM_152443.3
p.K117*
c.349A>T
5 papers
NM_152443.3
p.A126E
c.377C>A
29 papers
NM_152443.3
p.A126V
c.377C>T
24 papers
NM_152443.3
p.G127*
c.379G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."