Varaico: Literature-Extracted Genetic Variants

Gene:RDH8
Variant:p.L95R

RDH8

27 papers

RefSeq Summary

This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhod...

Pfam Domains

adh_shortaa 6–201UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

retinol dehydrogenase 8

HGNC Alias Symbols

PRRDH; SDR28C2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015725.4
p.L95R
c.284T>G
Surrounding Variants
1 paper
NM_015725.4
p.L99M
c.295C>A
1 paper
NM_015725.4
p.G101R
c.301G>A
1 paper
NM_015725.4
p.L121P
c.362T>C
2 papers
NM_015725.4
p.H136Q
c.408C>A
2 papers
NM_015725.4
p.H136Q
c.408C>G
1 paper
NM_015725.4
p.V143_M144Fs
c.429_432delinsGGTFs
1 paper
NM_015725.4
p.L146Q
c.437T>A
1 paper
NM_015725.4
p.Q147P
c.440A>C
1 paper
NM_015725.4
p.V88Splc
c.262+1G>A
1 paper
NM_015725.4
p.L87Q
c.260T>A
1 paper
NM_015725.4
p.V86G
c.257T>G
1 paper
NM_015725.4
p.C79C
c.237T>C
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