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

2 papers

NM_000459.5

p.G951D

c.2852G>A

Surrounding Variants

1 paper

NM_000459.5

p.R950Q

c.2849G>A

1 paper

NM_000459.5

p.R950W

c.2848C>T

1 paper

NM_000459.5

p.A949V

c.2846C>T

1 paper

NM_000459.5

p.V948M

c.2842G>A

1 paper

NM_000459.5

p.S956R

c.2866A>C

1 paper

NM_000459.5

p.S956R

c.2868C>A

1 paper

NM_000459.5

p.S956R

c.2868C>G

1 paper

NM_001290077.2

p.Q914*

c.2740C>T

1 paper

NM_000459.5

p.K958delFs

c.2874delA

2 papers

NM_000459.5

p.A945T

c.2833G>A

1 paper

NM_000459.5

p.K958fs

c.2872_2873fs

1 paper

NM_000459.5

p.L942F

c.2824C>T