Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.V30V

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.V30V
c.90G>C
Surrounding Variants
1 paper
NM_000353.3
p.V30V
c.90G>A
1 paper
NM_000353.3
p.S29_V30delFs
c.85_88del4
1 paper
NM_000353.3
p.S28_V30delFs
c.82_88del7
1 paper
NM_000353.3
p.V30delFs
c.90delC
1 paper
NM_000353.3
p.V30delFs
c.89_90delCA
1 paper
NM_000353.3
p.V30L
c.88G>T
1 paper
NM_000353.3
p.V30L
c.88G>C
1 paper
NM_000353.3
p.V30M
c.88G>A
1 paper
NM_000353.3
p.S29Fs
c.85_87delinsTFs
1 paper
NM_000353.3
p.S29_V30insFs
c.87_88insC
2 papers
NM_000353.3
p.P31P
c.93G>A
2 papers
NM_000353.3
p.G32E
c.95G>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."