Varaico: Literature-Extracted Genetic Variants

Gene:KYAT1
Variant:p.N16S

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
1 paper
NM_004059.5
p.N16S
c.47A>G
Surrounding Variants
1 paper
NM_004059.5
p.D14N
c.40G>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.R8Q
c.23G>A
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
1 paper
NM_004059.5
p.Q35R
c.104A>G
1 paper
NM_004059.5
p.G36S
c.106G>A
1 paper
NM_004059.5
p.D57N
c.169G>A
1 paper
NM_004059.5
p.N61S
c.182A>G
1 paper
NM_004059.5
p.Y63C
c.188A>G
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