Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.G63V

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
2 papers
NM_152443.3
p.G63V
c.188G>T
Surrounding Variants
2 papers
NM_152443.3
p.R62Q
c.185G>A
5 papers
NM_152443.3
p.R62L
c.185G>T
30 papers
NM_152443.3
p.R62*
c.184C>T
3 papers
NM_152443.3
p.A60D
c.179C>A
6 papers
NM_152443.3
p.A60T
c.178G>A
8 papers
NM_152443.3
p.A60P
c.178G>C
2 papers
NM_152443.3
p.L59R
c.176T>G
2 papers
NM_152443.3
p.R57_A60del4
c.169_179del12
2 papers
NM_152443.3
p.A56D
c.167C>A
1 paper
NM_152443.3
p.A56P
c.166G>C
5 papers
NM_152443.3
p.T55K
c.164C>A
22 papers
NM_152443.3
p.T55M
c.164C>T
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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."