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.P1099delFs

c.3297delC

Surrounding Variants

1 paper

NM_005424.5

p.P1099fs

c.3295_3296fs

1 paper

NM_005424.5

p.F1100fs

c.3298_3299fs

1 paper

NM_005424.5

p.F1100C

c.3299T>G

1 paper

NM_005424.5

p.L1107Q

c.3320T>A

3 papers

NM_005424.5

p.R1087H

c.3260G>A

1 paper

NM_005424.5

p.R1087C

c.3259C>T

4 papers

NM_005424.5

p.R1109H

c.3326G>A

NM_001253357.2

p.R1064H

c.3191G>A

2 papers

NM_005424.5

p.M1110R

c.3329T>G

1 paper

NM_005424.5

p.Y1083D

c.3247T>G

1 paper

NM_005424.5

p.D1080N

c.3238G>A

2 papers

NM_005424.5

p.E1061K

c.3181G>A

NM_001253357.2

p.E1016K

c.3046G>A

1 paper

NM_005424.5

p.G1056C

c.3166G>T