Varaico: Literature-Extracted Genetic Variants

Gene:KYAT1
Variant:p.R138C

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
Selected Variant
2 papers
NM_004059.5
p.R138C
c.412C>T
Surrounding Variants
1 paper
NM_004059.5
p.L144V
c.430C>G
1 paper
NM_004059.5
p.I120V
c.358A>G
2 papers
NM_004059.5
p.E117K
c.349G>A
1 paper
NM_004059.5
p.L83P
c.248T>C
1 paper
NM_004059.5
p.E82Q
c.244G>C
1 paper
NM_004059.5
p.G169S
c.505G>A
1 paper
NM_004059.5
p.E194K
c.580G>A
1 paper
NM_004059.5
p.H279R
c.836A>G
1 paper
NM_004059.5
p.E290K
c.868G>A
1 paper
NM_004059.5
p.P302S
c.904C>T
1 paper
NM_004059.5
p.Q308R
c.923A>G
1 paper
NM_004059.5
p.R315C
c.943C>T
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