Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.V212fs

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.V212fs
c.634_635fs
Surrounding Variants
1 paper
NM_002905.5
p.V212_T213delFs
c.634_637del4
1 paper
NM_002905.5
p.P211fs
c.631_632fs
1 paper
NM_002905.5
p.P211S
c.631C>T
1 paper
NM_002905.5
p.P211delFs
c.632_633delCT
1 paper
NM_002905.5
p.T213_N214insFs
c.639_640insA
1 paper
NM_002905.5
p.N214_L215ins4
c.640_644ins12
9 papers
NM_002905.5
p.R209*
c.625C>T
1 paper
NM_002905.5
p.E216K
c.646G>A
1 paper
NM_002905.5
p.E216G
c.647A>G
2 papers
NM_002905.5
p.P205H
c.614C>A
1 paper
NM_002905.5
p.K220R
c.659A>G
1 paper
NM_002905.5
p.L222P
c.665T>C
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