Varaico: Literature-Extracted Genetic Variants

Gene:RDH13
Variant:p.F288L

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
Selected Variant
2 papers
NM_001145971.2
p.F288L
c.864C>G
Surrounding Variants
2 papers
NM_001145971.2
p.F288L
c.864C>A
2 papers
NM_001145971.2
p.F288L
c.862T>C
1 paper
NM_001145971.2
p.P296fs
c.886_887fs
1 paper
NM_001145971.2
p.L274P
c.821T>C
1 paper
NM_001145971.2
p.P264H
c.791C>A
1 paper
NM_001145971.2
p.A321V
c.962C>T
1 paper
NM_001145971.2
p.T235I
c.704C>T
1 paper
NM_001145971.2
p.P230L
c.689C>T
1 paper
NM_001145971.2
p.T224I
c.671C>T
1 paper
NM_001145971.2
p.A206V
c.617C>T
1 paper
NM_001145971.2
p.A206D
c.617C>A
1 paper
NM_138412.4
p.K126K
c.378A>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."