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

3 papers

NM_005424.5

p.I854S

c.2561T>G

Surrounding Variants

1 paper

NM_005424.5

p.F850L

c.2550C>A

1 paper

NM_005424.5

p.F850L

c.2550C>G

1 paper

NM_005424.5

p.F850L

c.2548T>C

1 paper

NM_001253357.2

p.D816delFs

c.2446_2447delGA

1 paper

NM_001253357.2

p.D816fs

c.2446_2447fs

2 papers

NM_005424.5

p.G862E

c.2585G>A

1 paper

NM_005424.5

p.G846R

c.2536G>A

1 paper

NM_005424.5

p.G846R

c.2536G>C

1 paper

NM_005424.5

p.K864E

c.2590A>G

3 papers

NM_005424.5

p.K870R

c.2609A>G

1 paper

NM_005424.5

p.W836*

c.2508G>A

1 paper

NM_005424.5

p.W836*

c.2507G>A