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

18 papers

NM_000459.5

p.Y897S

c.2690A>C

Surrounding Variants

30 papers

NM_000459.5

p.Y897C

c.2690A>G

15 papers

NM_000459.5

p.Y897F

c.2690A>T

5 papers

NM_000459.5

p.Y897N

c.2689T>A

13 papers

NM_000459.5

p.Y897H

c.2689T>C

1 paper

NM_000459.5

p.G896G

c.2688C>T

1 paper

NM_000459.5

p.A901T

c.2701G>A

1 paper

NM_000459.5

p.I902T

c.2705T>C

2 papers

NM_000459.5

p.E903V

c.2708A>T

4 papers

NM_000459.5

p.Y904*

c.2712C>A

4 papers

NM_000459.5

p.Y904*

c.2712C>G

1 paper

NM_000459.5

p.A905T

c.2713G>A

1 paper

NM_000459.5

p.A905V

c.2714C>T