Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.K220R

RDH5

199 papers

RefSeq Summary

This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinalde...

Pfam Domains

adh_shortaa 29–221UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

retinol dehydrogenase 5

HGNC Alias Symbols

HSD17B9; SDR9C5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002905.5
p.K220R
c.659A>G
Surrounding Variants
1 paper
NM_002905.5
p.L222P
c.665T>C
2 papers
NM_002905.5
p.Q223P
c.668A>C
1 paper
NM_002905.5
p.E216G
c.647A>G
1 paper
NM_002905.5
p.A224V
c.671C>T
1 paper
NM_002905.5
p.E216K
c.646G>A
1 paper
NM_002905.5
p.W226*
c.677G>A
1 paper
NM_002905.5
p.N214_L215ins4
c.640_644ins12
1 paper
NM_002905.5
p.W226*
c.678G>A
1 paper
NM_002905.5
p.T213_N214insFs
c.639_640insA
2 papers
NM_002905.5
p.R228Q
c.683G>A
1 paper
NM_002905.5
p.V212fs
c.634_635fs
1 paper
NM_002905.5
p.V212_T213delFs
c.634_637del4
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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."