Varaico: Literature-Extracted Genetic Variants

Gene:RDH8
Variant:p.M202I

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.M202I
c.606G>C
Surrounding Variants
1 paper
NM_015725.4
p.M202I
c.606G>A
1 paper
NM_015725.4
p.M202I
c.606G>T
2 papers
NM_015725.4
p.M202T
c.605T>C
1 paper
NM_015725.4
p.M202delins
c.605_606delinsCA
1 paper
NM_015725.4
p.F205I
c.613T>A
1 paper
NM_015725.4
p.P206L
c.617C>T
1 paper
NM_015725.4
p.H214delFs
c.642delC
1 paper
NM_015725.4
p.V188L
c.562G>C
1 paper
NM_015725.4
p.V188L
c.562G>T
1 paper
NM_015725.4
p.P222L
c.665C>T
1 paper
NM_015725.4
p.S230F
c.689C>T
1 paper
NM_015725.4
p.R254C
c.760C>T
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