Varaico: Literature-Extracted Genetic Variants

Gene:ALDH8A1
Variant:p.F402S

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
2 papers
NM_022568.4
p.F402S
c.1205T>C
Surrounding Variants
1 paper
NM_022568.4
p.F393V
c.1177T>G
1 paper
NM_022568.4
p.A420G
c.1259C>G
1 paper
NM_022568.4
p.I381S
c.1142T>G
1 paper
NM_022568.4
p.S426fs
c.1276_1277fs
1 paper
NM_022568.4
p.V431fs
c.1291_1292fs
1 paper
NM_022568.4
p.A365fs
c.1093_1094fs
1 paper
NM_022568.4
p.P364fs
c.1090_1091fs
1 paper
NM_022568.4
p.G355S
c.1063G>A
1 paper
NM_022568.4
p.F457S
c.1370T>C
1 paper
NM_022568.4
p.S462R
c.1384A>C
1 paper
NM_022568.4
p.S462R
c.1386T>G
1 paper
NM_022568.4
p.S462R
c.1386T>A
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