Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.S28N

TAT

1,548 papers

RefSeq Summary

This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gen...

Pfam Domains

TAT_ubiqaa 1–40UCSCAminotransferase ubiquitination site
Aminotran_1_2aa 71–434UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

tyrosine aminotransferase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000353.3
p.S28N
c.83G>A
Surrounding Variants
1 paper
NM_000353.3
p.S28ins1
c.83_84insTTA
1 paper
NM_000353.3
p.S28_S29insFs
c.84_85insG
1 paper
NM_000353.3
p.S28C
c.82A>T
1 paper
NM_000353.3
p.S29_V30insFs
c.87_88insC
1 paper
NM_000353.3
p.R27*
c.79A>T
1 paper
NM_000353.3
p.V30L
c.88G>T
2 papers
NM_000353.3
p.G26_R27insFs
c.78_79insT
1 paper
NM_000353.3
p.V30L
c.88G>C
1 paper
NM_000353.3
p.V30M
c.88G>A
1 paper
NM_000353.3
p.S29Fs
c.85_87delinsTFs
1 paper
NM_000353.3
p.S28_V30delFs
c.82_88del7
1 paper
NM_000353.3
p.G26V
c.77G>T
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