Varaico: Literature-Extracted Genetic Variants

Gene:LAT
Variant:p.A104Splc

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.A104Splc
c.310+1G>A
Surrounding Variants
1 paper
NM_001014987.2
p.A104D
c.311C>A
1 paper
NM_001014987.2
p.G103D
c.308G>A
1 paper
NM_001014987.2
p.G103A
c.308G>C
1 paper
NM_001014987.2
p.G103S
c.307G>A
1 paper
NM_001014987.2
p.D102A
c.305A>C
1 paper
NM_001014987.2
p.D100A
c.299A>C
1 paper
NM_001014987.2
p.D100delFs
c.299_300delAT
1 paper
NM_001014987.2
p.R98R
c.294G>C
1 paper
NM_001014987.2
p.R98Q
c.293G>A
1 paper
NM_001014987.2
p.S97A
c.289T>G
1 paper
NM_001014987.2
p.S96A
c.286T>G
1 paper
NM_001014987.2
p.P95T
c.283C>A
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