Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.K184delFs

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.K184delFs
c.550delT
Surrounding Variants
1 paper
NM_000353.3
p.L185F
c.553C>T
1 paper
NM_000353.3
p.L185R
c.554T>G
1 paper
NM_000353.3
p.L185L
c.555C>T
1 paper
NM_000353.3
p.V183G
c.548T>G
1 paper
NM_000353.3
p.Y186*
c.558C>G
1 paper
NM_000353.3
p.Y186*
c.558C>A
1 paper
NM_000353.3
p.N187Y
c.559A>T
1 paper
NM_000353.3
p.V183_Y186del4
c.547_557del12
1 paper
NM_000353.3
p.E177_Y186del10
c.529_557del30
1 paper
NM_000353.3
p.I181_Y186del6
c.541_557del18
1 paper
NM_000353.3
p.N187K
c.561T>G
1 paper
NM_000353.3
p.N187K
c.561T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."