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.P248delFs

c.743delC

Surrounding Variants

1 paper

NM_005424.5

p.C246fs

c.736_737fs

1 paper

NM_005424.5

p.P247L

c.740C>T

2 papers

NM_005424.5

p.P248fs

c.742_743fs

1 paper

NM_005424.5

p.E243K

c.727G>A

1 paper

NM_005424.5

p.G252A

c.755G>C

1 paper

NM_005424.5

p.H238H

c.714C>T

1 paper

NM_005424.5

p.P229_G230insFs

c.687_688insCC

1 paper

NM_005424.5

p.P229A

c.685C>G

1 paper

NM_005424.5

p.P222A

c.664C>G

1 paper

NM_005424.5

p.W220R

c.658T>A

1 paper

NM_005424.5

p.W220R

c.658T>C

1 paper

NM_005424.5

p.F264L

c.790T>C