Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.Q7*

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.Q7*
c.19C>T
Surrounding Variants
2 papers
NM_000353.3
p.Q7E
c.19C>G
1 paper
NM_000353.3
p.I6I
c.18T>A
1 paper
NM_000353.3
p.I6T
c.17T>C
1 paper
NM_000353.3
p.M8L
c.22A>T
1 paper
NM_000353.3
p.I6F
c.16A>T
1 paper
NM_000353.3
p.M8K
c.23T>A
1 paper
NM_000353.3
p.M5insFs
c.14_15insT
1 paper
NM_000353.3
p.M5T
c.14T>C
2 papers
NM_000353.3
p.M8I
c.24G>T
2 papers
NM_000353.3
p.M8I
c.24G>C
3 papers
NM_000353.3
p.M8I
c.24G>A
1 paper
NM_000353.3
p.M5L
c.13A>T
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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."