Varaico: Literature-Extracted Genetic Variants

Gene:KYAT1

KYAT1

34 papers

RefSeq Summary

This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to ...

Pfam Domains

Aminotran_1_2aa 28–415UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

kynurenine aminotransferase 1

HGNC Previous Symbol

CCBL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
3 papers
NM_004059.5
p.Y63*
c.189C>G
3 papers
NM_004059.5
p.Y63*
c.189C>A
2 papers
NM_004059.5
p.E117K
c.349G>A
2 papers
NM_004059.5
p.R138C
c.412C>T
1 paper
NM_004059.5
p.R8Q
c.23G>A
1 paper
NM_004059.5
p.G12R
c.34G>C
1 paper
NM_004059.5
p.G12R
c.34G>A
1 paper
NM_004059.5
p.D14N
c.40G>A
1 paper
NM_004059.5
p.N16S
c.47A>G
1 paper
NM_004059.5
p.W18L
c.53G>T
1 paper
NM_004059.5
p.E27G
c.80A>G
1 paper
NM_004059.5
p.V31M
c.91G>A
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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."