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.K1518delFs

c.4553delT

Surrounding Variants

2 papers

NM_004304.5

p.K1518N

c.4554G>T

2 papers

NM_004304.5

p.K1518N

c.4554G>C

1 paper

NM_004304.5

p.K1518fs

c.4552_4553fs

1 paper

NM_004304.5

p.K1517fs

c.4549_4550fs

1 paper

NM_004304.5

p.T1516N

c.4547C>A

1 paper

NM_004304.5

p.I1522T

c.4565T>C

1 paper

NM_004304.5

p.E1513K

c.4537G>A

2 papers

NM_004304.5

p.T1512K

c.4535C>A

11 papers

NM_004304.5

p.K1525E

c.4573A>G

1 paper

NM_004304.5

p.K1525T

c.4574A>C

4 papers

NM_004304.5

p.K1525del1

c.4573_4574delCTT

1 paper

NM_004304.5

p.W1510*

c.4530G>A