Varaico: Literature-Extracted Genetic Variants

Gene:ALDH8A1

ALDH8A1

44 papers

RefSeq Summary

This gene encodes a member of the aldehyde dehydrogenase family of proteins. The encoded protein has been implicated in the synthesis of 9-cis-retinoic acid and in the breakdown of the amino acid tryp...

Pfam Domains

Aldedhaa 18–483UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 8 family member A1

HGNC Alias Symbol

ALDH12

Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
2 papers
NM_022568.4
p.F402S
c.1205T>C
1 paper
NM_022568.4
p.N5N
c.15C>T
1 paper
NM_022568.4
p.F13fs
c.37_38fs
1 paper
NM_022568.4
p.K17*
c.49A>T
1 paper
NM_022568.4
p.S23L
c.68C>T
1 paper
NM_022568.4
p.E34K
c.100G>A
1 paper
NM_022568.4
p.P40L
c.119C>T
1 paper
NM_022568.4
p.G43E
c.128G>A
1 paper
NM_022568.4
p.A49T
c.145G>A
1 paper
NM_022568.4
p.A54T
c.160G>A
1 paper
NM_022568.4
p.P59S
c.175C>T
1 paper
NM_022568.4
p.Q67insFs
c.201dupG
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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."