Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.G180E

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.G180E
c.539G>A
Surrounding Variants
1 paper
NM_000353.3
p.G180_I181insFs
c.540_541insA
1 paper
NM_000353.3
p.I181M
c.543T>G
1 paper
NM_000353.3
p.E182A
c.545A>C
1 paper
NM_000353.3
p.V183G
c.548T>G
1 paper
NM_000353.3
p.E177A
c.530A>C
2 papers
NM_000353.3
p.E177_S178insT
c.529_533ins3
1 paper
NM_000353.3
p.L185F
c.553C>T
1 paper
NM_000353.3
p.K184delFs
c.550delT
1 paper
NM_000353.3
p.L185R
c.554T>G
1 paper
NM_000353.3
p.L185L
c.555C>T
1 paper
NM_000353.3
p.Y186*
c.558C>G
1 paper
NM_000353.3
p.Y186*
c.558C>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."