Varaico: Literature-Extracted Genetic Variants

Gene:ALDH4A1
Variant:p.R47*

ALDH4A1

141 papers

RefSeq Summary

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation path...

Pfam Domains

Aldedhaa 74–547UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 4 family member A1

HGNC Previous Symbol

ALDH4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003748.4
p.R47*
c.139C>T
Surrounding Variants
1 paper
NM_003748.4
p.E46G
c.137A>G
1 paper
NM_003748.4
p.P45S
c.133C>T
1 paper
NM_003748.4
p.K52_A53Splc
c.156+2T>C
1 paper
NM_003748.4
p.P36L
c.107C>T
1 paper
NM_003748.4
p.P36S
c.106C>T
1 paper
NM_003748.4
p.E35K
c.103G>A
1 paper
NM_003748.4
p.A33T
c.97G>A
1 paper
NM_003748.4
p.S28F
c.83C>T
1 paper
NM_003748.4
p.H26_T27insFs
c.78_79ins14
1 paper
NM_003748.4
p.R23Q
c.68G>A
1 paper
NM_003748.4
p.D56Y
c.166G>T
1 paper
NM_003748.4
p.R60G
c.178C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."