Varaico: Literature-Extracted Genetic Variants

Gene:LMTK2
Variant:p.E556*

LMTK2

122 papers

RefSeq Summary

The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail w...

Pfam Domains

PK_Tyr_Ser-Thraa 137–407UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

lemur tyrosine kinase 2

HGNC Alias Symbols

KIAA1079; KPI2; KPI-2; cprk; LMR2; BREK; AATYK2; PPP1R100

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014916.4
p.E556*
c.1666G>T
Surrounding Variants
1 paper
NM_014916.4
p.N562_L563insT
c.1684_1688ins3
1 paper
NM_014916.4
p.S549R
c.1647C>A
1 paper
NM_014916.4
p.S549R
c.1647C>G
1 paper
NM_014916.4
p.S549N
c.1646G>A
1 paper
NM_014916.4
p.S549I
c.1646G>T
1 paper
NM_014916.4
p.S549R
c.1645A>C
1 paper
NM_014916.4
p.L563_E564ins5
c.1687_1691ins15
1 paper
NM_014916.4
p.G518V
c.1553G>T
1 paper
NM_014916.4
p.L597P
c.1790T>C
1 paper
NM_014916.4
p.Y500C
c.1499A>G
1 paper
NM_014916.4
p.R491W
c.1471C>T
1 paper
NM_014916.4
p.A480A
c.1440C>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."