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.L1425P

c.4274T>C

Surrounding Variants

1 paper

NM_004304.5

p.V1426A

c.4277T>C

1 paper

NM_004304.5

p.L1424F

c.4270C>T

3 papers

NM_004304.5

p.L1424I

c.4270C>A

1 paper

NM_004304.5

p.S1427P

c.4279T>C

3 papers

NM_004304.5

p.Q1428*

c.4282C>T

1 paper

NM_004304.5

p.Q1428_Q1429insC

c.4282_4286ins3

1 paper

NM_004304.5

p.Q1429*

c.4285C>T

1 paper

NM_004304.5

p.V1421I

c.4261G>A

1 paper

NM_004304.5

p.G1420E

c.4259G>A

9 papers

NM_004304.5

p.E1419K

c.4255G>A

2 papers

NM_004304.5

p.R1432W

c.4294C>T

1 paper

NM_004304.5

p.P1418H

c.4253C>A