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.T366T

c.1098G>C

Surrounding Variants

1 paper

NM_005424.5

p.T366K

c.1097C>A

1 paper

NM_005424.5

p.E365G

c.1094A>G

1 paper

NM_005424.5

p.L364S

c.1091T>C

1 paper

NM_005424.5

p.R369Q

c.1106G>A

1 paper

NM_005424.5

p.E359K

c.1075G>A

1 paper

NM_005424.5

p.G376W

c.1126G>T

1 paper

NM_005424.5

p.G376E

c.1127G>A

1 paper

NM_005424.5

p.N377Y

c.1129A>T

1 paper

NM_001253357.2

p.N310S

c.929A>G

1 paper

NM_005424.5

p.R382W

c.1144C>T

1 paper

NM_005424.5

p.D348Splc

c.1043-1G>T

1 paper

NM_005424.5

p.T398S

c.1192A>T