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.E1400D

c.4200A>T

Surrounding Variants

5 papers

NM_004304.5

p.E1400D

c.4200A>C

1 paper

NM_004304.5

p.I1399_E1400insFs

c.4197_4198ins5

2 papers

NM_004304.5

p.I1399T

c.4196T>C

2 papers

NM_004304.5

p.P1398L

c.4193C>T

1 paper

NM_004304.5

p.P1398S

c.4192C>T

1 paper

NM_004304.5

p.L1404F

c.4210C>T

5 papers

NM_004304.5

p.L1404V

c.4210C>G

3 papers

NM_004304.5

p.L1404P

c.4211T>C

1 paper

NM_004304.5

p.V1405L

c.4213G>T

1 paper

NM_004304.5

p.V1405L

c.4213G>C

2 papers

NM_004304.5

p.A1396T

c.4186G>A

1 paper

NM_004304.5

p.E1406K

c.4216G>A