Varaico: Literature-Extracted Genetic Variants

Gene:KYAT3
Variant:p.L380Q

KYAT3

47 papers

RefSeq Summary

This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid, which is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode differen...

Pfam Domains

Aminotran_1_2aa 63–446UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

kynurenine aminotransferase 3

HGNC Previous Symbol

CCBL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001008661.3
p.L380Q
c.1139T>A
Surrounding Variants
1 paper
NM_001008661.3
p.D381Y
c.1141G>T
1 paper
NM_001008661.3
p.V377L
c.1129G>T
1 paper
NM_001008661.3
p.V377L
c.1129G>C
1 paper
NM_001008661.3
p.E347*
c.1039G>T
2 papers
NM_001008661.3
p.M332V
c.994A>G
5 papers
NM_001008661.3
p.W326C
c.978G>T
5 papers
NM_001008661.3
p.W326C
c.978G>C
1 paper
NM_001008661.3
p.A322V
c.965C>T
1 paper
NM_001008661.3
p.Q318_E319Splc
c.954+2T>G
1 paper
NM_001008661.3
p.D381Y
c.1141G>T
1 paper
NM_001008661.3
p.N389T
c.1166A>C
1 paper
NM_001008661.3
p.A409T
c.1225G>A
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."