Varaico: Literature-Extracted Genetic Variants

Gene:RDH10
Variant:p.K278R

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
Selected Variant
1 paper
NM_172037.5
p.K278R
c.833A>G
Surrounding Variants
1 paper
NM_172037.5
p.K268*
c.802A>T
1 paper
NM_172037.5
p.D318Y
c.952G>T
1 paper
NM_172037.5
p.A337T
c.1009G>A
1 paper
NM_172037.5
p.A337E
c.1010C>A
1 paper
NM_172037.5
p.A337insFs
c.1010_1011insA
1 paper
NM_172037.5
p.L240insFs
c.719_720insG
1 paper
NM_172037.5
p.A230V
c.689C>T
1 paper
NM_172037.5
p.K214R
c.641A>G
1 paper
NM_172037.5
p.S213_K214insFs
c.639_640insA
1 paper
NM_172037.5
p.Y210F
c.629A>T
2 papers
NM_172037.5
p.S197T
c.590G>C
1 paper
NM_172037.5
p.S197G
c.589A>G
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