Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.V238insFs

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.V238insFs
c.712dupG
Surrounding Variants
3 papers
NM_152443.3
p.L237P
c.710T>C
1 paper
NM_152443.3
p.V238fs
c.712_713fs
6 papers
NM_152443.3
p.R239insFs
c.715dupC
4 papers
NM_152443.3
p.R239G
c.715C>G
10 papers
NM_152443.3
p.R239W
c.715C>T
2 papers
NM_152443.3
p.R239fs
c.715_716fs
6 papers
NM_152443.3
p.R239Q
c.716G>A
6 papers
NM_152443.3
p.R239L
c.716G>T
4 papers
NM_152443.3
p.S241del1
c.721_723delTCC
25 papers
NM_152443.3
p.R234H
c.701G>A
4 papers
NM_152443.3
p.R234C
c.700C>T
1 paper
NM_152443.3
p.R234fs
c.700_701fs
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."