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.R1214C

c.3640C>T

Surrounding Variants

1 paper

NM_004304.5

p.R1214G

c.3640C>G

1 paper

NM_004304.5

p.R1214L

c.3641G>T

2 papers

NM_004304.5

p.R1214H

c.3641G>A

1 paper

NM_004304.5

p.R1214R

c.3642C>T

1 paper

NM_004304.5

p.P1213H

c.3638C>A

1 paper

NM_004304.5

p.P1213fs

c.3637_3638fs

2 papers

NM_004304.5

p.P1213S

c.3637C>T

2 papers

NM_004304.5

p.P1213T

c.3637C>A

4 papers

NM_004304.5

p.P1215L

c.3644C>T

1 paper

NM_004304.5

p.R1212L

c.3635G>T

9 papers

NM_004304.5

p.R1212H

c.3635G>A

1 paper

NM_004304.5

p.P1213_P1215delFs

c.3638_3644del7