Varaico: Literature-Extracted Genetic Variants

TIE1

156 papers

RefSeq Summary

This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through th...

Pfam Domains

igaa 132–208UCSCImmunoglobulin domain

igaa 358–439UCSCImmunoglobulin domain

fn3aa 451–539UCSCFibronectin type III domain

fn3aa 549–637UCSCFibronectin type III domain

fn3aa 645–735UCSCFibronectin type III domain

PK_Tyr_Ser-Thraa 839–1107UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

tyrosine kinase with immunoglobulin like and EGF like domains 1

HGNC Alias Symbol

JTK14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005424.5

p.L33R

c.98T>G

Surrounding Variants

1 paper

NM_005424.5

p.N30T

c.89A>C

1 paper

NM_005424.5

p.Q37*

c.109C>T

1 paper

NM_005424.5

p.L28_A29insFs

c.84_85insT

1 paper

NM_005424.5

p.L28L

c.84G>T

1 paper

NM_005424.5

p.T26M

c.77C>T

1 paper

NM_005424.5

p.A22_V23insFs

c.66_67insG

1 paper

NM_005424.5

p.A22V

c.65C>T

1 paper

NM_005424.5

p.V44G

c.131T>G

1 paper

NM_005424.5

p.A21T

c.61G>A

1 paper

NM_005424.5

p.E47K

c.139G>A

1 paper

NM_005424.5

p.S54L

c.161C>T

1 paper

NM_005424.5

p.D66_D67insG

c.196_200ins3