Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.E202*

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.E202*
c.604G>T
Surrounding Variants
1 paper
NM_000353.3
p.E202_Y203insT
c.604_608ins3
6 papers
NM_000353.3
p.L201R
c.602T>G
1 paper
NM_000353.3
p.L201Q
c.602T>A
1 paper
NM_000353.3
p.L201V
c.601C>G
1 paper
NM_000353.3
p.Q200H
c.600A>T
1 paper
NM_000353.3
p.Q200H
c.600A>C
2 papers
NM_000353.3
p.I205V
c.613A>G
1 paper
NM_000353.3
p.Q200_L204del0
c.598_612del15
2 papers
NM_000353.3
p.I205T
c.614T>C
2 papers
NM_000353.3
p.L198L
c.592C>T
2 papers
NM_000353.3
p.L198M
c.592C>A
1 paper
NM_000353.3
p.D206G
c.617A>G
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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."