Varaico: Literature-Extracted Genetic Variants

Gene:RDH13

RDH13

37 papers

RefSeq Summary

This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may als...

Pfam Domains

adh_shortaa 39–243UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

retinol dehydrogenase 13

HGNC Alias Symbol

SDR7C3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
2 papers
NM_001145971.2
p.C130Y
c.389G>A
2 papers
NM_001145971.2
p.F288L
c.862T>C
2 papers
NM_001145971.2
p.F288L
c.864C>G
2 papers
NM_001145971.2
p.F288L
c.864C>A
1 paper
NM_001145971.2
p.M1T
c.2T>C
1 paper
NM_001145971.2
p.Y4insFs
c.10_11insG
1 paper
NM_001145971.2
p.A10_L11insG
c.28_32ins3
1 paper
NM_001145971.2
p.L21L
c.63C>A
1 paper
NM_001145971.2
p.K22E
c.64A>G
1 paper
NM_001145971.2
p.K22E
c.64A>G
1 paper
NM_001145971.2
p.G28E
c.83G>A
1 paper
NM_001145971.2
p.S32G
c.94A>G
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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."