Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.P55_V60del6

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.P55_V60del6
c.163_179del18
Surrounding Variants
1 paper
NM_000353.3
p.R57_V60del4
c.169_179del12
1 paper
NM_000353.3
p.F53_V60del8
c.157_179del24
1 paper
NM_000353.3
p.K51_V60del10
c.151_179del30
1 paper
NM_000353.3
p.A49_V60del12
c.145_179del36
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
1 paper
NM_000353.3
p.T52_D61del10
c.154_182del30
1 paper
NM_000353.3
p.I59T
c.176T>C
1 paper
NM_000353.3
p.N62K
c.186C>A
1 paper
NM_000353.3
p.D61_N62delFs
c.183_186del4
1 paper
NM_000353.3
p.D61_N62del0
c.181_186del6
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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."