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.G1468R

c.4402G>A

Surrounding Variants

1 paper

NM_004304.5

p.G1468R

c.4402G>C

1 paper

NM_004304.5

p.G1468E

c.4403G>A

4 papers

NM_004304.5

p.P1469S

c.4405C>T

1 paper

NM_004304.5

p.P1469L

c.4406C>T

1 paper

NM_004304.5

p.P1469Q

c.4406C>A

1 paper

NM_004304.5

p.P1469P

c.4407G>A

1 paper

NM_004304.5

p.A1470V

c.4409C>T

2 papers

NM_004304.5

p.V1465A

c.4394T>C

1 paper

NM_004304.5

p.V1471M

c.4411G>A

1 paper

NM_004304.5

p.V1471fs

c.4411_4412fs

1 paper

NM_004304.5

p.R1464P

c.4391G>C

3 papers

NM_004304.5

p.R1464*

c.4390C>T