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.P1260Q

c.3779C>A

Surrounding Variants

1 paper

NM_004304.5

p.P1260R

c.3779C>G

2 papers

NM_004304.5

p.P1260S

c.3778C>T

3 papers

NM_004304.5

p.G1261D

c.3782G>A

1 paper

NM_004304.5

p.C1259Y

c.3776G>A

1 paper

NM_004304.5

p.C1259fs

c.3775_3776fs

1 paper

NM_004304.5

p.P1262S

c.3784C>T

1 paper

NM_004304.5

p.T1258I

c.3773C>T

1 paper

NM_004304.5

p.T1258N

c.3773C>A

1 paper

NM_004304.5

p.T1258fs

c.3772_3773fs

2 papers

NM_004304.5

p.G1263R

c.3787G>C

2 papers

NM_004304.5

p.G1263R

c.3787G>A

1 paper

NM_004304.5

p.G1263V

c.3788G>T