Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.S73S

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.S73S
c.219C>T
Surrounding Variants
16 papers
NM_002905.5
p.S73F
c.218C>T
2 papers
NM_002905.5
p.S74P
c.220T>C
1 paper
NM_002905.5
p.A72fs
c.214_215fs
2 papers
NM_002905.5
p.A72fs
c.214_215fs
2 papers
NM_002905.5
p.V71fs
c.211_212fs
4 papers
NM_002905.5
p.V71_S74del4
c.211_221del12
4 papers
NM_002905.5
p.A72insFs
c.214_215ins4
1 paper
NM_002905.5
p.R70G
c.208C>G
4 papers
NM_002905.5
p.R70W
c.208C>T
1 paper
NM_002905.5
p.T79insFs
c.236_237insG
2 papers
NM_002905.5
p.L81_D82insA
c.241_245ins3
1 paper
NM_002905.5
p.D82insFs
c.245dupA
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