Varaico: Literature-Extracted Genetic Variants

Gene:ALDH6A1
Variant:p.E135*

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.E135*
c.403G>T
Surrounding Variants
1 paper
NM_005589.4
p.R140*
c.418C>T
1 paper
NM_005589.4
p.R140G
c.418C>G
1 paper
NM_005589.4
p.K129T
c.386A>C
1 paper
NM_005589.4
p.A120T
c.358G>A
1 paper
NM_005589.4
p.R101C
c.301C>T
1 paper
NM_005589.4
p.S100N
c.299G>A
1 paper
NM_005589.4
p.L99S
c.296T>C
1 paper
NM_005589.4
p.H147N
c.439C>A
1 paper
NM_005589.4
p.N65S
c.194A>G
1 paper
NM_005589.4
p.T64A
c.190A>G
1 paper
NM_005589.4
p.S153S
c.459C>G
1 paper
NM_005589.4
p.S162S
c.486C>T
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