Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.M73V

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.M73V
c.217A>G
Surrounding Variants
1 paper
NM_000353.3
p.S75F
c.224C>T
1 paper
NM_000353.3
p.S75S
c.225C>A
1 paper
NM_000353.3
p.N70S
c.209A>G
1 paper
NM_000353.3
p.N70insFs
c.209_210insG
1 paper
NM_000353.3
p.L76P
c.227T>C
2 papers
NM_000353.3
p.L76Q
c.227T>A
1 paper
NM_000353.3
p.P69P
c.207A>G
1 paper
NM_000353.3
p.L76L
c.228G>A
1 paper
NM_000353.3
p.P69A
c.205C>G
1 paper
NM_000353.3
p.P69T
c.205C>A
1 paper
NM_000353.3
p.N68insFs
c.203_204insA
1 paper
NM_000353.3
p.N68K
c.204T>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."