Varaico: Literature-Extracted Genetic Variants

Gene:RDH13
Variant:p.Y194*

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
1 paper
NM_001145971.2
p.Y194*
c.582T>G
Surrounding Variants
1 paper
NM_001145971.2
p.Y194*
c.582T>A
1 paper
NM_138412.4
p.K126K
c.378A>G
1 paper
NM_001145971.2
p.I182delFs
c.546delT
1 paper
NM_001145971.2
p.A206V
c.617C>T
1 paper
NM_001145971.2
p.A206D
c.617C>A
1 paper
NM_001145971.2
p.I182fs
c.544_545fs
1 paper
NM_001145971.2
p.H177D
c.529C>G
1 paper
NM_138412.4
p.I98I
c.294C>T
1 paper
NM_001145971.2
p.L157M
c.469C>A
1 paper
NM_001145971.2
p.G149Splc
c.445+52G>A
1 paper
NM_001145971.2
p.F143_G144Fs
c.429_432delinsGGTFs
1 paper
NM_001145971.2
p.E140K
c.418G>A
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