Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.W282R

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.W282R
c.844T>C
Surrounding Variants
1 paper
NM_000353.3
p.R281delFs
c.843delG
1 paper
NM_000353.3
p.W282*
c.845G>A
2 papers
NM_000353.3
p.R281P
c.842G>C
2 papers
NM_000353.3
p.R281H
c.842G>A
1 paper
NM_000353.3
p.R281C
c.841C>T
1 paper
NM_000353.3
p.L283P
c.848T>C
3 papers
NM_000353.3
p.K280R
c.839A>G
1 paper
NM_000353.3
p.K280T
c.839A>C
1 paper
NM_000353.3
p.K280Q
c.838A>C
1 paper
NM_000353.3
p.A279V
c.836C>T
1 paper
NM_000353.3
p.A279D
c.836C>A
3 papers
NM_000353.3
p.L278P
c.833T>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."