Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.W287*

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.W287*
c.860G>A
Surrounding Variants
1 paper
NM_000353.3
p.W287C
c.861G>C
1 paper
NM_000353.3
p.R288M
c.863G>T
1 paper
NM_000353.3
p.G286V
c.857G>T
1 paper
NM_000353.3
p.G286D
c.857G>A
2 papers
NM_000353.3
p.V284_P285delFs
c.852_855del4
1 paper
NM_000353.3
p.G290V
c.869G>T
3 papers
NM_000353.3
p.G290insFs
c.869dupG
1 paper
NM_000353.3
p.W291fs
c.871_872fs
1 paper
NM_000353.3
p.L283P
c.848T>C
1 paper
NM_000353.3
p.W291L
c.872G>T
1 paper
NM_000353.3
p.W282*
c.845G>A
1 paper
NM_000353.3
p.W282R
c.844T>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."