Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.S117T

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.S117T
c.349T>A
Surrounding Variants
1 paper
NM_000353.3
p.L116L
c.348A>T
1 paper
NM_000353.3
p.L116I
c.346C>A
1 paper
NM_000353.3
p.F115L
c.345C>G
1 paper
NM_000353.3
p.F115L
c.345C>A
1 paper
NM_000353.3
p.F115L
c.343T>C
3 papers
NM_000353.3
p.F115I
c.343T>A
6 papers
NM_000353.3
p.R119W
c.355C>T
5 papers
NM_000353.3
p.G114A
c.341G>C
1 paper
NM_000353.3
p.G114D
c.341G>A
1 paper
NM_000353.3
p.G114S
c.340G>A
1 paper
NM_000353.3
p.G114Splc
c.341-2A>G
2 papers
NM_000353.3
p.E120E
c.360G>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."