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.L1204L

c.3612C>G

Surrounding Variants

6 papers

NM_004304.5

p.L1204F

c.3610C>T

6 papers

NM_004304.5

p.L1204V

c.3610C>G

9 papers

NM_004304.5

p.S1206A

c.3616T>G

3 papers

NM_004304.5

p.D1203G

c.3608A>G

20 papers

NM_004304.5

p.G1202del1

c.3604_3605delTCC

3 papers

NM_004304.5

p.D1203H

c.3607G>C

91 papers

NM_004304.5

p.D1203N

c.3607G>A

18 papers

NM_004304.5

p.S1206F

c.3617C>T

18 papers

NM_004304.5

p.S1206C

c.3617C>G

100 papers

NM_004304.5

p.S1206Y

c.3617C>A

1 paper

NM_004304.5

p.D1203fs

c.3607_3608fs

2 papers

NM_004304.5

p.G1202G

c.3606A>G