Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.V305_L306delFs

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
4 papers
NM_002905.5
p.V305_L306delFs
c.913_917del5
Surrounding Variants
1 paper
NM_002905.5
p.V302V
c.906G>T
4 papers
NM_002905.5
p.V305fs
c.913_914fs
1 paper
NM_002905.5
p.L301_V302insFs
c.903_904insG
1 paper
NM_002905.5
p.A299A
c.897C>T
1 paper
NM_002905.5
p.A299insFs
c.896_897insT
2 papers
NM_002905.5
p.L310delFs
c.928delC
2 papers
NM_002905.5
p.V309_L310ins1
c.927_928insGAA
14 papers
NM_002905.5
p.L310delins
c.928delinsGAAG
1 paper
NM_002905.5
p.S295F
c.884C>T
1 paper
NM_002905.5
p.K312delFs
c.935delA
1 paper
NM_002905.5
p.K312R
c.935A>G
10 papers
NM_002905.5
p.A294P
c.880G>C
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