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.R65C

c.193C>T

Surrounding Variants

1 paper

NM_004304.5

p.F64L

c.192C>G

1 paper

NM_004304.5

p.F64L

c.192C>A

1 paper

NM_004304.5

p.V59_F64delFs

c.175_190del16

1 paper

NM_004304.5

p.F64L

c.190T>C

1 paper

NM_004304.5

p.V66I

c.196G>A

1 paper

NM_004304.5

p.V66A

c.197T>C

1 paper

NM_004304.5

p.L63H

c.188T>A

1 paper

NM_004304.5

p.V66V

c.198C>G

2 papers

NM_004304.5

p.Y67C

c.200A>G

5 papers

NM_004304.5

p.S62L

c.185C>T

1 paper

NM_004304.5

p.A68S

c.202G>T

1 paper

NM_004304.5

p.A68P

c.202G>C