Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.P3A

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.P3A
c.7C>G
Surrounding Variants
1 paper
NM_000353.3
p.D2_P3insFs
c.6_7insA
2 papers
NM_000353.3
p.D2E
c.6C>A
1 paper
NM_000353.3
p.D2V
c.5A>T
1 paper
NM_000353.3
p.M1insFs
c.3dupG
1 paper
NM_000353.3
p.D2insFs
c.5_6ins4
1 paper
NM_000353.3
p.D2N
c.4G>A
2 papers
NM_000353.3
p.M1I
c.3G>T
1 paper
NM_000353.3
p.M1insFs
c.2_3insT
1 paper
NM_000353.3
p.M1delFs
c.2delA
1 paper
NM_000353.3
p.M1K
c.2T>A
1 paper
NM_000353.3
p.M5L
c.13A>T
2 papers
NM_000353.3
p.M1V
c.1A>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."