Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.R297*

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
7 papers
NM_000353.3
p.R297*
c.889C>T
Surrounding Variants
1 paper
NM_000353.3
p.R297L
c.890G>T
1 paper
NM_000353.3
p.D296N
c.886G>A
3 papers
NM_000353.3
p.H295R
c.884A>G
1 paper
NM_000353.3
p.D299G
c.896A>G
1 paper
NM_000353.3
p.I300F
c.898A>T
1 paper
NM_000353.3
p.W291L
c.872G>T
1 paper
NM_000353.3
p.W291fs
c.871_872fs
3 papers
NM_000353.3
p.G290insFs
c.869dupG
1 paper
NM_000353.3
p.G290V
c.869G>T
1 paper
NM_000353.3
p.E304_I305Splc
c.912+2T>G
1 paper
NM_000353.3
p.R288M
c.863G>T
1 paper
NM_000353.3
p.W287C
c.861G>C
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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."