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.P1191H

c.3572C>A

Surrounding Variants

2 papers

NM_004304.5

p.P1191L

c.3572C>T

2 papers

NM_004304.5

p.P1191S

c.3571C>T

1 paper

NM_004304.5

p.P1191A

c.3571C>G

1 paper

NM_004304.5

p.P1191T

c.3571C>A

7 papers

NM_004304.5

p.R1192W

c.3574C>T

9 papers

NM_004304.5

p.R1192G

c.3574C>G

3 papers

NM_004304.5

p.L1190P

c.3569T>C

55 papers

NM_004304.5

p.R1192P

c.3575G>C

7 papers

NM_004304.5

p.R1192Q

c.3575G>A

1 paper

NM_004304.5

p.L1190M

c.3568C>A

2 papers

NM_004304.5

p.F1193L

c.3577T>C

1 paper

NM_004304.5

p.S1189S

c.3567C>T