Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.I198delFs

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.I198delFs
c.592delA
Surrounding Variants
2 papers
NM_002905.5
p.I198fs
c.592_593fs
1 paper
NM_002905.5
p.I198_V203delFs
c.594_609del16
1 paper
NM_002905.5
p.R199Q
c.596G>A
1 paper
NM_002905.5
p.F196L
c.586T>C
1 paper
NM_002905.5
p.V200V
c.600C>G
8 papers
NM_002905.5
p.S201F
c.602C>T
2 papers
NM_002905.5
p.V193fs
c.577_578fs
2 papers
NM_002905.5
p.V193delFs
c.577delG
8 papers
NM_002905.5
p.R191Q
c.572G>A
2 papers
NM_002905.5
p.P205H
c.614C>A
9 papers
NM_002905.5
p.R209*
c.625C>T
1 paper
NM_002905.5
p.P211fs
c.631_632fs
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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."