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

3 papers

NM_004304.5

p.M552I

c.1656G>T

Surrounding Variants

3 papers

NM_004304.5

p.M552I

c.1656G>C

4 papers

NM_004304.5

p.M552I

c.1656G>A

3 papers

NM_004304.5

p.R551Q

c.1652G>A

2 papers

NM_004304.5

p.R551*

c.1651C>T

1 paper

NM_004304.5

p.R551R

c.1651C>A

1 paper

NM_004304.5

p.W554C

c.1662G>T

1 paper

NM_004304.5

p.W554C

c.1662G>C

1 paper

NM_004304.5

p.W554_L555delins

c.1662_1664delinsCTC

6 papers

NM_004304.5

p.L550F

c.1648C>T

2 papers

NM_004304.5

p.L550I

c.1648C>A

2 papers

NM_004304.5

p.E549_L550Splc

c.1648-1G>T

3 papers

NM_004304.5

p.R557C

c.1669C>T