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.R461H

c.1382G>A

Surrounding Variants

1 paper

NM_005424.5

p.S460T

c.1379G>C

1 paper

NM_005424.5

p.F471L

c.1411T>C

1 paper

NM_005424.5

p.F471S

c.1412T>C

1 paper

NM_005424.5

p.F471L

c.1413C>A

1 paper

NM_005424.5

p.F471L

c.1413C>G

1 paper

NM_005424.5

p.G473V

c.1418G>T

1 paper

NM_005424.5

p.V448M

c.1342G>A

1 paper

NM_005424.5

p.V448fs

c.1342_1343fs

1 paper

NM_005424.5

p.P447delFs

c.1341delC

1 paper

NM_005424.5

p.V445Splc

c.1334-1G>A

4 papers

NM_005424.5

p.R481C

c.1441C>T

NM_001253357.2

p.R436C

c.1306C>T

1 paper

NM_005424.5

p.R485Q

c.1454G>A