Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.M380I

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.M380I
c.1140G>T
Surrounding Variants
1 paper
NM_000353.3
p.M380I
c.1140G>C
1 paper
NM_000353.3
p.M380I
c.1140G>A
1 paper
NM_000353.3
p.E379D
c.1137G>T
1 paper
NM_000353.3
p.E379D
c.1137G>C
1 paper
NM_000353.3
p.E381D
c.1143A>T
1 paper
NM_000353.3
p.E381D
c.1143A>C
1 paper
NM_000353.3
p.E379K
c.1135G>A
1 paper
NM_000353.3
p.F383_P384insFs
c.1149_1150insA
1 paper
NM_000353.3
p.H382_F383del2
c.1144_1148del6
1 paper
NM_000353.3
p.E385K
c.1153G>A
1 paper
NM_000353.3
p.N388D
c.1162A>G
2 papers
NM_000353.3
p.D389N
c.1165G>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."