Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.S16S

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
1 paper
NM_000353.3
p.S16S
c.48A>G
Surrounding Variants
1 paper
NM_000353.3
p.S16S
c.48A>C
1 paper
NM_000353.3
p.S16insFs
c.46_47insT
3 papers
NM_000353.3
p.I17V
c.49A>G
1 paper
NM_000353.3
p.P15_S16delFs
c.44_48del5
1 paper
NM_000353.3
p.I17T
c.50T>C
1 paper
NM_000353.3
p.I17I
c.51T>A
3 papers
NM_000353.3
p.L18L
c.52C>T
2 papers
NM_000353.3
p.L18M
c.52C>A
3 papers
NM_000353.3
p.P15S
c.43C>T
1 paper
NM_000353.3
p.L18L
c.54G>A
1 paper
NM_000353.3
p.L14H
c.41T>A
1 paper
NM_000353.3
p.D19Y
c.55G>T
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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."