Varaico: Literature-Extracted Genetic Variants

Gene:ALDH6A1
Variant:p.G446R

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
6 papers
NM_005589.4
p.G446R
c.1336G>A
Surrounding Variants
7 papers
NM_005589.4
p.G446R
c.1336G>C
1 paper
NM_005589.4
p.N439Y
c.1315A>T
2 papers
NM_005589.4
p.Q468*
c.1402C>T
3 papers
NM_005589.4
p.P421S
c.1261C>T
1 paper
NM_005589.4
p.E416K
c.1246G>A
1 paper
NM_005589.4
p.G486S
c.1456G>A
1 paper
NM_005589.4
p.R488P
c.1463G>C
1 paper
NM_005589.4
p.S490F
c.1469C>T
1 paper
NM_005589.4
p.K387Q
c.1159A>C
1 paper
NM_005589.4
p.R386*
c.1156C>T
1 paper
NM_005589.4
p.G385E
c.1154G>A
1 paper
NM_005589.4
p.E377G
c.1130A>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."