Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.G159R

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
2 papers
NM_000353.3
p.G159R
c.475G>A
Surrounding Variants
1 paper
NM_000353.3
p.G159R
c.475G>C
1 paper
NM_000353.3
p.G159A
c.476G>C
1 paper
NM_000353.3
p.A156V
c.467C>T
1 paper
NM_000353.3
p.A156G
c.467C>G
3 papers
NM_000353.3
p.A156S
c.466G>T
1 paper
NM_000353.3
p.I162fs
c.484_485fs
1 paper
NM_000353.3
p.V154A
c.461T>C
1 paper
NM_000353.3
p.L163L
c.489G>A
3 papers
NM_000353.3
p.V154M
c.460G>A
1 paper
NM_000353.3
p.P165S
c.493C>T
7 papers
NM_000353.3
p.C151Y
c.452G>A
1 paper
NM_000353.3
p.P167S
c.499C>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."