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

13 papers

NM_000459.5

p.R915L

c.2744G>T

Surrounding Variants

10 papers

NM_000459.5

p.R915H

c.2744G>A

2 papers

NM_000459.5

p.R915S

c.2743C>A

25 papers

NM_000459.5

p.R915C

c.2743C>T

1 paper

NM_000459.5

p.L914R

c.2741T>G

89 papers

NM_000459.5

p.L914F

c.2740C>T

1 paper

NM_000459.5

p.S917R

c.2749A>C

1 paper

NM_000459.5

p.F913_L914delins

c.2739_2740delinsTT

7 papers

NM_000459.5

p.S917I

c.2750G>T

1 paper

NM_000459.5

p.S917R

c.2751C>A

1 paper

NM_000459.5

p.S917R

c.2751C>G

1 paper

NM_000459.5

p.R918S

c.2752C>A

1 paper

NM_000459.5

p.R918G

c.2752C>G