Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.L44fs

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
3 papers
NM_002905.5
p.L44fs
c.130_131fs
Surrounding Variants
3 papers
NM_002905.5
p.L43delFs
c.129delT
8 papers
NM_002905.5
p.R42C
c.124C>T
1 paper
NM_002905.5
p.G41G
c.123G>A
1 paper
NM_002905.5
p.L46P
c.137T>C
1 paper
NM_002905.5
p.L46R
c.137T>G
1 paper
NM_002905.5
p.Q47Q
c.141G>A
1 paper
NM_002905.5
p.S38S
c.114A>T
1 paper
NM_002905.5
p.Q50*
c.148C>T
1 paper
NM_002905.5
p.R51fs
c.151_152fs
1 paper
NM_002905.5
p.R51K
c.152G>A
1 paper
NM_002905.5
p.G35G
c.105C>A
1 paper
NM_002905.5
p.G52D
c.155G>A
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