Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.R57*

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.R57*
c.169C>T
Surrounding Variants
1 paper
NM_000353.3
p.R57G
c.169C>G
1 paper
NM_000353.3
p.I56N
c.167T>A
1 paper
NM_000353.3
p.R57R
c.171A>G
1 paper
NM_000353.3
p.A58T
c.172G>A
1 paper
NM_000353.3
p.I56F
c.166A>T
1 paper
NM_000353.3
p.I56V
c.166A>G
1 paper
NM_000353.3
p.A58V
c.173C>T
1 paper
NM_000353.3
p.P55S
c.163C>T
1 paper
NM_000353.3
p.I59T
c.176T>C
2 papers
NM_000353.3
p.V60L
c.178G>T
2 papers
NM_000353.3
p.I59_V60insFs
c.177_178insT
2 papers
NM_000353.3
p.V60L
c.178G>C
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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."