Varaico: Literature-Extracted Genetic Variants

Gene:ALDH8A1
Variant:p.Q67insFs

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
Selected Variant
1 paper
NM_022568.4
p.Q67insFs
c.201dupG
Surrounding Variants
1 paper
NM_022568.4
p.R69C
c.205C>T
1 paper
NM_022568.4
p.V72_V76del0
c.216_227del12
1 paper
NM_022568.4
p.P59S
c.175C>T
1 paper
NM_022568.4
p.A54T
c.160G>A
1 paper
NM_022568.4
p.A49T
c.145G>A
1 paper
NM_022568.4
p.Q89*
c.265C>T
1 paper
NM_022568.4
p.T104S
c.310A>T
1 paper
NM_022568.4
p.T104S
c.311C>G
1 paper
NM_022568.4
p.T104N
c.311C>A
1 paper
NM_022568.4
p.R109W
c.325C>T
1 paper
NM_022568.4
p.S120C
c.359C>G
1 paper
NM_022568.4
p.T125K
c.374C>A
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."