Varaico: Literature-Extracted Genetic Variants

TEK

535 papers

RefSeq Summary

This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three e...

Pfam Domains

Ig_Tie2_1aa 24–118UCSCTie-2 Ig-like domain 1

fn3aa 544–632UCSCFibronectin type III domain

fn3aa 640–729UCSCFibronectin type III domain

PK_Tyr_Ser-Thraa 824–1092UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

TEK receptor tyrosine kinase

HGNC Previous Symbol

VMCM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

16 papers

NM_000459.5

p.T1106P

c.3316A>C

Surrounding Variants

1 paper

NM_000459.5

p.T1106M

c.3317C>T

18 papers

NM_000459.5

p.T1105N

c.3314C>A

1 paper

NM_000459.5

p.T1105_T1106delins

c.3314_3316delinsACC

1 paper

NM_000459.5

p.L1107delFs

c.3319_3320delCT

1 paper

NM_000459.5

p.T1105fs

c.3313_3314fs

1 paper

NM_000459.5

p.T1105_L1107delFs

c.3314_3321del8

1 paper

NM_000459.5

p.L1107I

c.3319C>A

1 paper

NM_000459.5

p.Y1108insFs

c.3322dupT

1 paper

NM_000459.5

p.L1107delFs

c.3320_3321delTT

2 papers

NM_000459.5

p.Y1108_T1112delFs

c.3324_3334del11

1 paper

NM_000459.5

p.Y1108delFs

c.3323_3324delAT

1 paper

NM_000459.5

p.Y1108fs

c.3322_3323fs