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.V1149A

c.3446T>C

Surrounding Variants

1 paper

NM_004304.5

p.V1149L

c.3445G>T

1 paper

NM_004304.5

p.V1149L

c.3445G>C

1 paper

NM_004304.5

p.A1148D

c.3443C>A

2 papers

NM_004304.5

p.K1150M

c.3449A>T

1 paper

NM_004304.5

p.K1150R

c.3449A>G

1 paper

NM_004304.5

p.K1150N

c.3450G>T

1 paper

NM_004304.5

p.K1150N

c.3450G>C

1 paper

NM_004304.5

p.Q1146P

c.3437A>C

3 papers

NM_004304.5

p.Q1146K

c.3436C>A

1 paper

NM_004304.5

p.L1145fs

c.3433_3434fs

1 paper

NM_004304.5

p.L1145R

c.3434T>G

1 paper

NM_004304.5

p.L1145delFs

c.3433delG