Varaico: Literature-Extracted Genetic Variants

Gene:ALDH6A1
Variant:p.P184R

ALDH6A1

66 papers

RefSeq Summary

This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine...

Pfam Domains

Aldedhaa 48–512UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 6 family member A1

HGNC Previous Symbol

MMSDH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005589.4
p.P184R
c.551C>G
Surrounding Variants
1 paper
NM_005589.4
p.P184L
c.551C>T
1 paper
NM_005589.4
p.F185_F187Fs
c.554_559delinsTGTGFs
1 paper
NM_005589.4
p.M190R
c.569T>G
1 paper
NM_005589.4
p.V178L
c.532G>T
1 paper
NM_005589.4
p.V178L
c.532G>C
1 paper
NM_005589.4
p.I191M
c.573C>G
2 papers
NM_005589.4
p.Y172H
c.514T>C
1 paper
NM_005589.4
p.S162S
c.486C>T
1 paper
NM_005589.4
p.S153S
c.459C>G
1 paper
NM_005589.4
p.H147N
c.439C>A
1 paper
NM_005589.4
p.R140*
c.418C>T
1 paper
NM_005589.4
p.R140G
c.418C>G
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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."