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

1–12 of 599 variants

89 papers

NM_000459.5

p.L914F

c.2740C>T

67 papers

NM_000459.5

p.R849W

c.2545C>T

30 papers

NM_000459.5

p.Y897C

c.2690A>G

25 papers

NM_000459.5

p.R915C

c.2743C>T

18 papers

NM_000459.5

p.Y897S

c.2690A>C

18 papers

NM_000459.5

p.R918C

c.2752C>T

18 papers

NM_000459.5

p.T1105N

c.3314C>A

16 papers

NM_000459.5

p.T1106P

c.3316A>C

15 papers

NM_000459.5

p.Y897F

c.2690A>T

13 papers

NM_000459.5

p.Y897H

c.2689T>C

13 papers

NM_000459.5

p.R915L

c.2744G>T

11 papers

NM_000459.5

p.R918H

c.2753G>A