Varaico: Literature-Extracted Genetic Variants

Gene:KYAT3
Variant:p.T172I

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.T172I
c.515C>T
Surrounding Variants
1 paper
NM_001008661.3
p.D160N
c.478G>A
1 paper
NM_001008661.3
p.V152I
c.454G>A
1 paper
NM_001008661.3
p.E201*
c.601G>T
1 paper
NM_001008661.3
p.S206F
c.617C>T
1 paper
NM_001008661.3
p.T215I
c.644C>T
1 paper
NM_001008661.3
p.P219A
c.655C>G
1 paper
NM_001008661.3
p.L220F
c.658C>T
1 paper
NM_001008661.3
p.E151_V152Splc
c.453+5G>C
1 paper
NM_001008661.3
p.Q96L
c.287A>T
1 paper
NM_001008661.3
p.Y80_V81insFs
c.240_241ins25
1 paper
NM_001008662.3
p.V31I
c.91G>A
2 papers
NM_001008661.3
p.A278T
c.832G>A
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