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.L1571L

c.4713G>C

Surrounding Variants

1 paper

NM_004304.5

p.L1571insFs

c.4711_4712dupCT

1 paper

NM_004304.5

p.F1572fs

c.4714_4715fs

1 paper

NM_004304.5

p.R1573S

c.4719G>T

1 paper

NM_004304.5

p.R1573S

c.4719G>C

1 paper

NM_004304.5

p.V1569A

c.4706T>C

4 papers

NM_004304.5

p.E1568A

c.4703A>C

8 papers

NM_004304.5

p.R1575H

c.4724G>A

1 paper

NM_004304.5

p.P1578L

c.4733C>T

1 paper

NM_004304.5

p.C1579Y

c.4736G>A

1 paper

NM_004304.5

p.G1580R

c.4738G>A

1 paper

NM_004304.5

p.S1561L

c.4682C>T

1 paper

NM_004304.5

p.N1583S

c.4748A>G