Varaico: Literature-Extracted Genetic Variants

Gene:TAT

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
1–12 of 583 variants
12 papers
NM_000353.3
p.Y412Y
c.1236C>T
8 papers
NM_000353.3
p.R57*
c.169C>T
8 papers
NM_000353.3
p.L273P
c.818T>C
8 papers
NM_000353.3
p.R433W
c.1297C>T
7 papers
NM_000353.3
p.C151Y
c.452G>A
7 papers
NM_000353.3
p.R297*
c.889C>T
6 papers
NM_000353.3
p.R119W
c.355C>T
6 papers
NM_000353.3
p.L201R
c.602T>G
6 papers
NM_000353.3
p.P220S
c.658C>T
6 papers
NM_000353.3
p.G362V
c.1085G>T
5 papers
NM_000353.3
p.G114A
c.341G>C
5 papers
NM_000353.3
p.T408T
c.1224G>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."