Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.L24fs

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
2 papers
NM_002905.5
p.L24fs
c.70_71fs
Surrounding Variants
3 papers
NM_002905.5
p.L24L
c.70C>T
5 papers
NM_002905.5
p.L24fs
c.70_71fs
7 papers
NM_002905.5
p.L24_P25delFs
c.71_74del4
1 paper
NM_002905.5
p.P25A
c.73C>G
1 paper
NM_002905.5
p.P25S
c.73C>T
1 paper
NM_002905.5
p.P25L
c.74C>T
1 paper
NM_002905.5
p.R21Q
c.62G>A
1 paper
NM_002905.5
p.R21L
c.62G>T
1 paper
NM_002905.5
p.R21W
c.61C>T
2 papers
NM_002905.5
p.S27_N28insFs
c.81_82insA
1 paper
NM_002905.5
p.N28delFs
c.83delA
5 papers
NM_002905.5
p.R19G
c.55A>G
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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."