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

5 papers

NM_004304.5

p.L1198I

c.3592C>A

Surrounding Variants

122 papers

NM_004304.5

p.L1198F

c.3592C>T

1 paper

NM_004304.5

p.L1198V

c.3592C>G

1 paper

NM_004304.5

p.L1198R

c.3593T>G

13 papers

NM_004304.5

p.L1198P

c.3593T>C

7 papers

NM_004304.5

p.L1198H

c.3593T>A

1 paper

NM_004304.5

p.E1197E

c.3591G>A

2 papers

NM_004304.5

p.L1198L

c.3594C>T

3 papers

NM_004304.5

p.E1197K

c.3589G>A

5 papers

NM_004304.5

p.M1199L

c.3595A>T

4 papers

NM_004304.5

p.M1199L

c.3595A>C

1 paper

NM_004304.5

p.M1199R

c.3596T>G

1 paper

NM_004304.5

p.L1196R

c.3587T>G