Varaico: Literature-Extracted Genetic Variants

ALK

3,554 papers

RefSeq Summary

This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass t...

Pfam Domains

MAMaa 480–635UCSCMAM domain, meprin/A5/mu

ALK_LTK_GRDaa 728–989UCSCALK/LTK, Glycine-rich domain

PK_Tyr_Ser-Thraa 1116–1383UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

ALK receptor tyrosine kinase

HGNC Alias Symbols

CD246; ALK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004304.5

p.V142V

c.426G>A

Surrounding Variants

3 papers

NM_004304.5

p.L141L

c.423G>A

1 paper

NM_004304.5

p.E144_L145insG

c.430_434ins3

1 paper

NM_004304.5

p.E144K

c.430G>A

1 paper

NM_004304.5

p.L145P

c.434T>C

1 paper

NM_004304.5

p.L145Q

c.434T>A

1 paper

NM_004304.5

p.K139N

c.417G>T

1 paper

NM_004304.5

p.K139N

c.417G>C

1 paper

NM_004304.5

p.G146_E147insT

c.436_440ins3

1 paper

NM_004304.5

p.K139R

c.416A>G

1 paper

NM_004304.5

p.G146V

c.437G>T

1 paper

NM_004304.5

p.K139E

c.415A>G

1 paper

NM_004304.5

p.K139_Q140insG

c.415_419ins3