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.R91C

c.271C>T

Surrounding Variants

2 papers

NM_005424.5

p.T89K

c.266C>A

1 paper

NM_005424.5

p.T89M

c.266C>T

1 paper

NM_005424.5

p.F93delFs

c.279delC

1 paper

NM_005424.5

p.G84_S85insT

c.250_254ins3

1 paper

NM_005424.5

p.R82C

c.244C>T

1 paper

NM_005424.5

p.A81G

c.242C>G

1 paper

NM_005424.5

p.V106L

c.316G>C

1 paper

NM_005424.5

p.V106L

c.316G>T

1 paper

NM_005424.5

p.G75R

c.223G>A

1 paper

NM_005424.5

p.G108fs

c.322_323fs

1 paper

NM_005424.5

p.P73P

c.219G>T

1 paper

NM_005424.5

p.P73delFs

c.218delC