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.S1561L

c.4682C>T

Surrounding Variants

1 paper

NM_004304.5

p.P1559H

c.4676C>A

2 papers

NM_004304.5

p.P1559S

c.4675C>T

1 paper

NM_004304.5

p.L1557P

c.4670T>C

1 paper

NM_004304.5

p.L1555delFs

c.4663delG

1 paper

NM_004304.5

p.L1555fs

c.4663_4664fs

1 paper

NM_004304.5

p.S1554*

c.4661C>G

1 paper

NM_004304.5

p.S1554*

c.4661C>A

4 papers

NM_004304.5

p.E1568A

c.4703A>C

1 paper

NM_004304.5

p.S1554P

c.4660T>C

1 paper

NM_004304.5

p.V1569A

c.4706T>C

1 paper

NM_004304.5

p.A1553D

c.4658C>A

2 papers

NM_004304.5

p.G1552R

c.4654G>C