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.S1481C

c.4442C>G

Surrounding Variants

1 paper

NM_004304.5

p.S1481F

c.4442C>T

2 papers

NM_004304.5

p.F1480L

c.4440C>G

2 papers

NM_004304.5

p.F1480L

c.4440C>A

2 papers

NM_004304.5

p.F1480L

c.4438T>C

1 paper

NM_004304.5

p.S1483F

c.4448C>T

1 paper

NM_004304.5

p.A1479V

c.4436C>T

1 paper

NM_004304.5

p.A1479E

c.4436C>A

1 paper

NM_004304.5

p.N1484D

c.4450A>G

6 papers

NM_004304.5

p.M1478T

c.4433T>C

1 paper

NM_004304.5

p.N1484N

c.4452C>T

1 paper

NM_004304.5

p.V1476A

c.4427T>C

2 papers

NM_004304.5

p.V1476M

c.4426G>A