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

1 paper

NM_000459.5

p.A929V

c.2786C>T

Surrounding Variants

1 paper

NM_000459.5

p.A933T

c.2797G>A

1 paper

NM_000459.5

p.A925T

c.2773G>A

4 papers

NM_000459.5

p.A925S

c.2773G>T

1 paper

NM_000459.5

p.S934P

c.2800T>C

1 paper

NM_000459.5

p.T935I

c.2804C>T

2 papers

NM_000459.5

p.T922M

c.2765C>T

1 paper

NM_000459.5

p.E921E

c.2763G>A

1 paper

NM_000459.5

p.S938delFs

c.2812delT

1 paper

NM_000459.5

p.S938fs

c.2812_2813fs

3 papers

NM_000459.5

p.V919L

c.2755G>C

1 paper

NM_000459.5

p.Q939H

c.2817G>C

4 papers

NM_000459.5

p.V919L

c.2755G>T