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.C272Y

c.815G>A

Surrounding Variants

1 paper

NM_005424.5

p.G277A

c.830G>C

1 paper

NM_005424.5

p.Q266R

c.797A>G

1 paper

NM_005424.5

p.R279Q

c.836G>A

1 paper

NM_005424.5

p.R279P

c.836G>C

1 paper

NM_005424.5

p.F264L

c.792T>A

1 paper

NM_005424.5

p.F264L

c.792T>G

1 paper

NM_005424.5

p.F264L

c.790T>C

1 paper

NM_005424.5

p.Y289C

c.866A>G

1 paper

NM_005424.5

p.G290delFs

c.868delG

1 paper

NM_005424.5

p.C291*

c.873C>A

1 paper

NM_005424.5

p.S292C

c.875C>G

2 papers

NM_005424.5

p.G296S

c.886G>A