Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.H21N

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.H21N
c.61C>A
Surrounding Variants
1 paper
NM_000353.3
p.H21D
c.61C>G
1 paper
NM_000353.3
p.D19_V20del0
c.55_60del6
1 paper
NM_000353.3
p.L18_V20delFs
c.53_60del8
1 paper
NM_000353.3
p.I17_V20delFs
c.51_60del10
1 paper
NM_000353.3
p.D19_V20delFs
c.57_60del4
1 paper
NM_000353.3
p.L18_H21delFs
c.54_61del8
1 paper
NM_000353.3
p.L18_H21delFs
c.52_61del10
1 paper
NM_000353.3
p.V20L
c.58G>T
1 paper
NM_000353.3
p.V22L
c.64G>C
1 paper
NM_000353.3
p.V22I
c.64G>A
1 paper
NM_000353.3
p.V20M
c.58G>A
1 paper
NM_000353.3
p.V22D
c.65T>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."