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

1–12 of 2594 variants

508 papers

NM_004304.5

p.F1174L

c.3522C>A

506 papers

NM_004304.5

p.F1174L

c.3520T>C

505 papers

NM_004304.5

p.F1174L

c.3522C>G

452 papers

NM_004304.5

p.L1196M

c.3586C>A

419 papers

NM_004304.5

p.G1202R

c.3604G>C

418 papers

NM_004304.5

p.G1202R

c.3604G>A

331 papers

NM_004304.5

p.R1275Q

c.3824G>A

260 papers

NM_004304.5

p.K423K

c.1269G>A

259 papers

NM_004304.5

p.G1269A

c.3806G>C

254 papers

NM_004304.5

p.C1156Y

c.3467G>A

158 papers

NM_004304.5

p.I1171N

c.3512T>A

148 papers

NM_004304.5

p.F1174C

c.3521T>G