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

2 papers

NM_005424.5

p.G814R

c.2440G>A

Surrounding Variants

2 papers

NM_005424.5

p.G814R

c.2440G>C

1 paper

NM_005424.5

p.S813S

c.2439A>C

1 paper

NM_005424.5

p.S813L

c.2438C>T

1 paper

NM_005424.5

p.L809R

c.2426T>G

1 paper

NM_005424.5

p.T819A

c.2455A>G

1 paper

NM_005424.5

p.E805del1

c.2413_2415delGAG

1 paper

NM_001253357.2

p.E782K

c.2344G>A

1 paper

NM_005424.5

p.E835K

c.2503G>A

1 paper

NM_005424.5

p.W836*

c.2507G>A

1 paper

NM_005424.5

p.W836*

c.2508G>A

1 paper

NM_005424.5

p.G846R

c.2536G>A

1 paper

NM_005424.5

p.G846R

c.2536G>C