Varaico: Literature-Extracted Genetic Variants

Gene:ALDH6A1
Variant:p.V37M

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.V37M
c.109G>A
Surrounding Variants
1 paper
NM_005589.4
p.F33S
c.98T>C
3 papers
NM_005589.4
p.F33I
c.97T>A
1 paper
NM_005589.4
p.V17I
c.49G>A
1 paper
NM_005589.4
p.V40V
c.120A>T
1 paper
NM_005589.4
p.G46W
c.136G>T
1 paper
NM_005589.4
p.W56R
c.166T>C
1 paper
NM_005589.4
p.W56R
c.166T>A
1 paper
NM_005589.4
p.P62S
c.184C>T
1 paper
NM_005589.4
p.T64A
c.190A>G
1 paper
NM_005589.4
p.N65S
c.194A>G
1 paper
NM_005589.4
p.L99S
c.296T>C
1 paper
NM_005589.4
p.S100N
c.299G>A
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