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

3 papers

NM_004304.5

p.A1222P

c.3664G>C

Surrounding Variants

1 paper

NM_004304.5

p.L1221P

c.3662T>C

1 paper

NM_004304.5

p.S1220S

c.3660C>G

1 paper

NM_004304.5

p.L1224L

c.3670C>T

1 paper

NM_004304.5

p.S1219F

c.3656C>T

1 paper

NM_004304.5

p.S1219P

c.3655T>C

3 papers

NM_004304.5

p.D1225N

c.3673G>A

1 paper

NM_004304.5

p.D1225E

c.3675C>G

2 papers

NM_004304.5

p.D1225E

c.3675C>A

2 papers

NM_004304.5

p.L1226F

c.3676C>T

2 papers

NM_004304.5

p.P1218S

c.3652C>T

1 paper

NM_004304.5

p.Q1217H

c.3651G>T

1 paper

NM_004304.5

p.Q1217H

c.3651G>C