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

3 papers

NM_004304.5

p.K1416N

c.4248G>C

Surrounding Variants

3 papers

NM_004304.5

p.K1416N

c.4248G>T

1 paper

NM_004304.5

p.D1417H

c.4249G>C

1 paper

NM_004304.5

p.K1416fs

c.4246_4247fs

1 paper

NM_004304.5

p.K1416E

c.4246A>G

1 paper

NM_004304.5

p.K1416_D1417del1

c.4248_4250delTCC

1 paper

NM_004304.5

p.P1418H

c.4253C>A

9 papers

NM_004304.5

p.E1419K

c.4255G>A

1 paper

NM_004304.5

p.V1413L

c.4237G>T

1 paper

NM_004304.5

p.V1413L

c.4237G>C

1 paper

NM_004304.5

p.G1420E

c.4259G>A

1 paper

NM_004304.5

p.V1421I

c.4261G>A

1 paper

NM_004304.5

p.V1411L

c.4231G>T