Varaico: Literature-Extracted Genetic Variants

Gene:LAT
Variant:p.D186A

LAT

199 papers

RefSeq Summary

The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane prot...

Pfam Domains

LATaa 1–258UCSCLinker for activation of T-cells

Gene Aliases

HGNC Name

linker for activation of T cells

HGNC Alias Symbol

LAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001014987.2
p.D186A
c.557A>C
Surrounding Variants
1 paper
NM_001014987.2
p.S184A
c.550T>G
1 paper
NM_001014987.2
p.A181V
c.542C>T
1 paper
NM_001014987.2
p.G178A
c.533G>C
1 paper
NM_001014987.2
p.P175_E176insFs
c.525_526insC
1 paper
NM_001014987.2
p.P175L
c.524C>T
1 paper
NM_001014987.2
p.P175A
c.523C>G
2 papers
NM_001014987.2
p.V174A
c.521T>C
2 papers
NM_001014987.2
p.V174insFs
c.520_521insT
1 paper
NM_001014987.2
p.V172A
c.515T>C
6 papers
NM_001014987.2
p.Y171F
c.512A>T
1 paper
NM_001014989.2
p.Y207delFs
c.620_621delAC
1 paper
NM_001014987.2
p.D169A
c.506A>C
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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."