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.R203fs

c.607_608fs

Surrounding Variants

1 paper

NM_004304.5

p.R203K

c.608G>A

1 paper

NM_004304.5

p.R203delFs

c.607delT

1 paper

NM_004304.5

p.L204L

c.610C>T

1 paper

NM_004304.5

p.L204P

c.611T>C

1 paper

NM_004304.5

p.R203_L204delFs

c.607_610del4

1 paper

NM_004304.5

p.G202R

c.604G>C

1 paper

NM_004304.5

p.G202R

c.604G>A

1 paper

NM_004304.5

p.S205delFs

c.613delA

1 paper

NM_004304.5

p.A206T

c.616G>A

1 paper

NM_004304.5

p.K194_R200delFs

c.582_600del19

1 paper

NM_004304.5

p.E201*

c.601G>T

1 paper

NM_004304.5

p.E201K

c.601G>A