Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.R40W

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.R40W
c.118A>T
Surrounding Variants
1 paper
NM_000353.3
p.R40G
c.118A>G
1 paper
NM_000353.3
p.A39D
c.116C>A
1 paper
NM_000353.3
p.A39T
c.115G>A
3 papers
NM_000353.3
p.K38K
c.114G>A
1 paper
NM_000353.3
p.W41*
c.122G>A
1 paper
NM_000353.3
p.W41C
c.123G>C
2 papers
NM_000353.3
p.W41*
c.123G>A
1 paper
NM_000353.3
p.S42T
c.124T>A
1 paper
NM_000353.3
p.K38*
c.112A>T
1 paper
NM_000353.3
p.S42F
c.125C>T
1 paper
NM_000353.3
p.S42S
c.126T>C
2 papers
NM_000353.3
p.R37K
c.110G>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."