Varaico: Literature-Extracted Genetic Variants

Gene:RDH8

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
1–12 of 34 variants
2 papers
NM_015725.4
p.H136Q
c.408C>A
2 papers
NM_015725.4
p.H136Q
c.408C>G
2 papers
NM_015725.4
p.M202T
c.605T>C
1 paper
NM_015725.4
p.M1T
c.2T>C
1 paper
NM_015725.4
p.Q34_V35insFs
c.102_103insA
1 paper
NM_015725.4
p.S69S
c.207T>C
1 paper
NM_015725.4
p.E71insFs
c.213dupG
1 paper
NM_015725.4
p.C79C
c.237T>C
1 paper
NM_015725.4
p.V86G
c.257T>G
1 paper
NM_015725.4
p.L87Q
c.260T>A
1 paper
NM_015725.4
p.V88Splc
c.262+1G>A
1 paper
NM_015725.4
p.L95R
c.284T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."