Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.R417*

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
5 papers
NM_000353.3
p.R417*
c.1249C>T
Surrounding Variants
4 papers
NM_000353.3
p.R417Q
c.1250G>A
1 paper
NM_000353.3
p.F415Y
c.1244T>A
1 paper
NM_000353.3
p.I420V
c.1258A>G
1 paper
NM_000353.3
p.I420L
c.1258A>C
1 paper
NM_000353.3
p.P413P
c.1239G>A
1 paper
NM_000353.3
p.P413S
c.1237C>T
1 paper
NM_000353.3
p.T421S
c.1261A>T
1 paper
NM_000353.3
p.T421_V422insG
c.1261_1265ins3
12 papers
NM_000353.3
p.Y412Y
c.1236C>T
1 paper
NM_000353.3
p.T421R
c.1262C>G
3 papers
NM_000353.3
p.E411*
c.1231G>T
1 paper
NM_000353.3
p.E424K
c.1270G>A
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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."