Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.H127D

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.H127D
c.379C>G
Surrounding Variants
1 paper
NM_000353.3
p.Y126F
c.377A>T
1 paper
NM_000353.3
p.P129insFs
c.385_386insA
1 paper
NM_000353.3
p.C128delFs
c.382_383delCA
1 paper
NM_000353.3
p.S124T
c.370T>A
1 paper
NM_000353.3
p.E130K
c.388G>A
1 paper
NM_000353.3
p.A131ins1
c.391_392insTAT
2 papers
NM_000353.3
p.A131V
c.392C>T
1 paper
NM_000353.3
p.A131G
c.392C>G
1 paper
NM_000353.3
p.E121D
c.363G>T
1 paper
NM_000353.3
p.E121D
c.363G>C
2 papers
NM_000353.3
p.E121A
c.362A>C
1 paper
NM_000353.3
p.P132insFs
c.396dupC
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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."