Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.S256S

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.S256S
c.768G>A
Surrounding Variants
1 paper
NM_000353.3
p.F255_S256del1
c.764_766delAAA
1 paper
NM_000353.3
p.F255L
c.765T>G
1 paper
NM_000353.3
p.F255F
c.765T>C
1 paper
NM_000353.3
p.F255L
c.765T>A
1 paper
NM_000353.3
p.F255V
c.763T>G
1 paper
NM_000353.3
p.F255L
c.763T>C
1 paper
NM_000353.3
p.V254insFs
c.760dupG
2 papers
NM_000353.3
p.E261K
c.781G>A
1 paper
NM_000353.3
p.T265A
c.793A>G
1 paper
NM_000353.3
p.T265P
c.793A>C
1 paper
NM_000353.3
p.L266F
c.796C>T
1 paper
NM_000353.3
p.S267delFs
c.800delC
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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."