Varaico: Literature-Extracted Genetic Variants

Gene:RDH10

RDH10

26 papers

RefSeq Summary

This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for syn...

Pfam Domains

adh_shortaa 78–259UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

retinol dehydrogenase 10

HGNC Alias Symbol

SDR16C4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
2 papers
NM_172037.5
p.S197T
c.590G>C
1 paper
NM_172037.5
p.M1T
c.2T>C
1 paper
NM_172037.5
p.F7F
c.21C>T
1 paper
NM_172037.5
p.K13insFs
c.38_39insA
1 paper
NM_172037.5
p.W16*
c.47G>A
1 paper
NM_172037.5
p.A17T
c.49G>A
1 paper
NM_172037.5
p.K30R
c.89A>G
1 paper
NM_172037.5
p.G43A
c.128G>C
1 paper
NM_172037.5
p.G47A
c.140G>C
1 paper
NM_172037.5
p.G49A
c.146G>C
1 paper
NM_172037.5
p.G98E
c.293G>A
1 paper
NM_172037.5
p.E101K
c.301G>A
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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."