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

4 papers

NM_004304.5

p.G1121D

c.3362G>A

Surrounding Variants

1 paper

NM_004304.5

p.G1121A

c.3362G>C

10 papers

NM_004304.5

p.L1122V

c.3364C>G

2 papers

NM_004304.5

p.R1120L

c.3359G>T

4 papers

NM_004304.5

p.R1120Q

c.3359G>A

6 papers

NM_004304.5

p.R1120W

c.3358C>T

2 papers

NM_004304.5

p.G1123C

c.3367G>T

29 papers

NM_004304.5

p.G1123S

c.3367G>A

10 papers

NM_004304.5

p.G1123D

c.3368G>A

1 paper

NM_004304.5

p.H1124R

c.3371A>G

1 paper

NM_004304.5

p.G1125_A1126ins4

c.3373_3377ins12

3 papers

NM_004304.5

p.G1125S

c.3373G>A

1 paper

NM_004304.5

p.G1125V

c.3374G>T