Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.G12delFs

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.G12delFs
c.35delC
Surrounding Variants
1 paper
NM_000353.3
p.G12V
c.35G>T
1 paper
NM_000353.3
p.G12A
c.35G>C
3 papers
NM_000353.3
p.G12D
c.35G>A
1 paper
NM_000353.3
p.N13fs
c.37_38fs
1 paper
NM_000353.3
p.G12C
c.34G>T
2 papers
NM_000353.3
p.G12R
c.34G>C
1 paper
NM_000353.3
p.G12S
c.34G>A
1 paper
NM_000353.3
p.L14_P15insT
c.40_44ins3
1 paper
NM_000353.3
p.L14H
c.41T>A
1 paper
NM_000353.3
p.K11E
c.31A>G
3 papers
NM_000353.3
p.P15S
c.43C>T
1 paper
NM_000353.3
p.S16insFs
c.46_47insT
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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."