Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.S223*

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
2 papers
NM_000353.3
p.S223*
c.668C>G
Surrounding Variants
2 papers
NM_000353.3
p.S223*
c.668C>A
1 paper
NM_000353.3
p.S223S
c.669A>G
1 paper
NM_000353.3
p.V224L
c.670G>C
1 paper
NM_000353.3
p.G222E
c.665G>A
1 paper
NM_000353.3
p.F225L
c.673T>C
1 paper
NM_000353.3
p.F225S
c.674T>C
1 paper
NM_000353.3
p.C221Y
c.662G>A
1 paper
NM_000353.3
p.S226C
c.676A>T
1 paper
NM_000353.3
p.S226G
c.676A>G
6 papers
NM_000353.3
p.P220S
c.658C>T
1 paper
NM_000353.3
p.K227N
c.681A>T
1 paper
NM_000353.3
p.R228C
c.682C>T
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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."