Varaico: Literature-Extracted Genetic Variants

Gene:ALDH6A1

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
1–12 of 62 variants
7 papers
NM_005589.4
p.G446R
c.1336G>C
6 papers
NM_005589.4
p.G446R
c.1336G>A
3 papers
NM_005589.4
p.I14V
c.40A>G
3 papers
NM_005589.4
p.F33I
c.97T>A
3 papers
NM_005589.4
p.P421S
c.1261C>T
3 papers
NM_005589.4
p.R535C
c.1603C>T
2 papers
NM_005589.4
p.Y172H
c.514T>C
2 papers
NM_005589.4
p.Q468*
c.1402C>T
2 papers
NM_005589.4
p.R535H
c.1604G>A
1 paper
NM_005589.4
p.M1V
c.1A>G
1 paper
NM_005589.4
p.M1R
c.2T>G
1 paper
NM_005589.4
p.A2V
c.5C>T
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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."