Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.R433W

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
8 papers
NM_000353.3
p.R433W
c.1297C>T
Surrounding Variants
5 papers
NM_000353.3
p.R433Q
c.1298G>A
1 paper
NM_000353.3
p.C431delFs
c.1293delG
1 paper
NM_000353.3
p.Q435*
c.1303C>T
1 paper
NM_000353.3
p.Q435Q
c.1305G>A
1 paper
NM_000353.3
p.A430T
c.1288G>A
1 paper
NM_000353.3
p.E429A
c.1286A>C
1 paper
NM_000353.3
p.F437F
c.1311C>T
1 paper
NM_000353.3
p.M427I
c.1281G>T
1 paper
NM_000353.3
p.M427I
c.1281G>C
1 paper
NM_000353.3
p.M427I
c.1281G>A
1 paper
NM_000353.3
p.M427T
c.1280T>C
1 paper
NM_000353.3
p.M427V
c.1279A>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."