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.E1536E

c.4608G>A

Surrounding Variants

1 paper

NM_004304.5

p.L1535Q

c.4604T>A

1 paper

NM_004304.5

p.S1538I

c.4613G>T

1 paper

NM_004304.5

p.K1517_L1533delFs

c.4549_4597del49

1 paper

NM_004304.5

p.T1540S

c.4618A>T

1 paper

NM_004304.5

p.T1540S

c.4619C>G

1 paper

NM_004304.5

p.L1533M

c.4597C>A

1 paper

NM_004304.5

p.N1532N

c.4596C>T

1 paper

NM_004304.5

p.V1541A

c.4622T>C

1 paper

NM_004304.5

p.N1532D

c.4594A>G

1 paper

NM_004304.5

p.P1542S

c.4624C>T

1 paper

NM_004304.5

p.P1542Q

c.4625C>A

1 paper

NM_004304.5

p.P1542fs

c.4624_4625fs