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.I1171M

c.3513C>G

Surrounding Variants

1 paper

NM_004304.5

p.I1171fs

c.3511_3512fs

41 papers

NM_004304.5

p.I1171S

c.3512T>G

134 papers

NM_004304.5

p.I1171T

c.3512T>C

158 papers

NM_004304.5

p.I1171N

c.3512T>A

1 paper

NM_004304.5

p.S1172G

c.3514A>G

1 paper

NM_004304.5

p.I1170I

c.3510C>T

12 papers

NM_004304.5

p.I1170S

c.3509T>G

4 papers

NM_004304.5

p.I1170T

c.3509T>C

11 papers

NM_004304.5

p.I1170N

c.3509T>A

1 paper

NM_004304.5

p.I1170V

c.3508A>G

1 paper

NM_004304.5

p.I1170L

c.3508A>C

1 paper

NM_004304.5

p.L1169P

c.3506T>C