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

67 papers

NM_000459.5

p.R849W

c.2545C>T

Surrounding Variants

1 paper

NM_000459.5

p.K844T

c.2531A>C

1 paper

NM_000459.5

p.K844_G847del4

c.2530_2540del12

3 papers

NM_000459.5

p.K855R

c.2564A>G

1 paper

NM_000459.5

p.R842H

c.2525G>A

2 papers

NM_000459.5

p.R856T

c.2567G>C

7 papers

NM_000459.5

p.A841V

c.2522C>T

1 paper

NM_000459.5

p.A841_R842del2

c.2521_2525del6

1 paper

NM_000459.5

p.M857T

c.2570T>C

1 paper

NM_000459.5

p.Q837H

c.2511A>C

1 paper

NM_000459.5

p.Q837H

c.2511A>T

1 paper

NM_000459.5

p.G833D

c.2498G>A

1 paper

NM_000459.5

p.G831W

c.2491G>T