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.L1591S

c.4772T>C

Surrounding Variants

1 paper

NM_004304.5

p.L1591ins0

c.4771_4773dupTTG

1 paper

NM_004304.5

p.Q1589fs

c.4765_4766fs

1 paper

NM_004304.5

p.E1594K

c.4780G>A

1 paper

NM_004304.5

p.E1594D

c.4782A>T

1 paper

NM_004304.5

p.E1594D

c.4782A>C

1 paper

NM_004304.5

p.E1594_A1595insFs

c.4782_4783insA

1 paper

NM_004304.5

p.A1595fs

c.4783_4784fs

3 papers

NM_004304.5

p.A1595A

c.4785C>T

1 paper

NM_004304.5

p.A1596T

c.4786G>A

6 papers

NM_004304.5

p.G1585S

c.4753G>A

1 paper

NM_004304.5

p.Y1584Y

c.4752C>T

1 paper

NM_004304.5

p.N1583N

c.4749T>C