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.G5fs

c.13_14fs

Surrounding Variants

1 paper

NM_004304.5

p.G5W

c.13G>T

20 papers

NM_004304.5

p.G5R

c.13G>C

2 papers

NM_004304.5

p.G5R

c.13G>A

1 paper

NM_004304.5

p.A3_I4delFs

c.9_12del4

1 paper

NM_004304.5

p.L6delins

c.16delinsT

1 paper

NM_004304.5

p.I4V

c.10A>G

1 paper

NM_004304.5

p.A3delFs

c.9delG

1 paper

NM_004304.5

p.L6H

c.17T>A

1 paper

NM_004304.5

p.A3fs

c.7_8fs

1 paper

NM_004304.5

p.A3T

c.7G>A

2 papers

NM_004304.5

p.L7M

c.19C>A

1 paper

NM_004304.5

p.L7R

c.20T>G