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

2 papers

NM_004304.5

p.M1615I

c.4845G>C

Surrounding Variants

2 papers

NM_004304.5

p.M1615I

c.4845G>T

2 papers

NM_004304.5

p.M1615I

c.4845G>A

3 papers

NM_004304.5

p.Q1617*

c.4849C>T

1 paper

NM_004304.5

p.Q1617fs

c.4849_4850fs

1 paper

NM_004304.5

p.P1618L

c.4853C>T

1 paper

NM_004304.5

p.G1619V

c.4856G>T

2 papers

NM_004304.5

p.S1611N

c.4832G>A

1 paper

NM_004304.5

p.K1610N

c.4830A>T

1 paper

NM_004304.5

p.K1610N

c.4830A>C

1 paper

NM_004304.5

p.*1621R

c.4861T>C

1 paper

NM_004304.5

p.I1608I

c.4824T>C

2 papers

NM_004304.5

p.T1607I

c.4820C>T