Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.T408M

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
3 papers
NM_000353.3
p.T408M
c.1223C>T
Surrounding Variants
5 papers
NM_000353.3
p.T408T
c.1224G>T
4 papers
NM_000353.3
p.P406L
c.1217C>T
1 paper
NM_000353.3
p.P406Q
c.1217C>A
1 paper
NM_000353.3
p.S401_P406delFs
c.1201_1216del16
1 paper
NM_000353.3
p.L405P
c.1214T>C
2 papers
NM_000353.3
p.L405Fs
c.1213delinsAGFs
1 paper
NM_000353.3
p.C404Y
c.1211G>A
1 paper
NM_000353.3
p.H403Y
c.1207C>T
1 paper
NM_000353.3
p.S401S
c.1203T>A
1 paper
NM_000353.3
p.S401insFs
c.1201dupT
1 paper
NM_000353.3
p.E399K
c.1195G>A
1 paper
NM_000353.3
p.A398G
c.1193C>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."