Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.P149_R155ins2

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.P149_R155ins2
c.445_465dup21
Surrounding Variants
1 paper
NM_002905.5
p.V143_T144Fs
c.429_432delinsGGTFs
1 paper
NM_002905.5
p.V143L
c.427G>C
2 papers
NM_002905.5
p.R155W
c.463C>T
1 paper
NM_002905.5
p.I141I
c.423C>T
2 papers
NM_002905.5
p.R155Q
c.464G>A
1 paper
NM_002905.5
p.G156R
c.466G>C
12 papers
NM_002905.5
p.R157W
c.469C>T
11 papers
NM_002905.5
p.R157Q
c.470G>A
7 papers
NM_002905.5
p.G139V
c.416G>T
1 paper
NM_002905.5
p.G139fs
c.415_416fs
2 papers
NM_002905.5
p.M138R
c.413T>G
1 paper
NM_002905.5
p.G139delFs
c.416delG
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