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

1–12 of 244 variants

3 papers

NM_005424.5

p.R481C

c.1441C>T

3 papers

NM_005424.5

p.I854S

c.2561T>G

3 papers

NM_005424.5

p.K870R

c.2609A>G

3 papers

NM_005424.5

p.R1087H

c.3260G>A

3 papers

NM_005424.5

p.R1109H

c.3326G>A

2 papers

NM_005424.5

p.V5G

c.14T>G

2 papers

NM_005424.5

p.R68H

c.203G>A

2 papers

NM_005424.5

p.T89K

c.266C>A

2 papers

NM_005424.5

p.I117M

c.351C>G

2 papers

NM_005424.5

p.P248fs

c.742_743fs

2 papers

NM_005424.5

p.G296S

c.886G>A

2 papers

NM_005424.5

p.G433S

c.1297G>A