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

2 papers

NM_004304.5

p.C1156S

c.3467G>C

Surrounding Variants

11 papers

NM_004304.5

p.C1156F

c.3467G>T

254 papers

NM_004304.5

p.C1156Y

c.3467G>A

3 papers

NM_004304.5

p.C1156S

c.3466T>A

1 paper

NM_004304.5

p.C1156*

c.3468C>A

1 paper

NM_004304.5

p.S1157T

c.3469T>A

1 paper

NM_004304.5

p.V1155G

c.3464T>G

1 paper

NM_004304.5

p.V1155L

c.3463G>T

1 paper

NM_004304.5

p.V1155L

c.3463G>C

1 paper

NM_004304.5

p.E1158Q

c.3472G>C

1 paper

NM_004304.5

p.E1154Q

c.3460G>C

4 papers

NM_004304.5

p.E1154K

c.3460G>A

1 paper

NM_004304.5

p.Q1159*

c.3475C>T