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.W1503*

c.4509G>A

Surrounding Variants

1 paper

NM_004304.5

p.W1503C

c.4509G>T

1 paper

NM_004304.5

p.W1503C

c.4509G>C

1 paper

NM_004304.5

p.W1503*

c.4508G>A

1 paper

NM_004304.5

p.S1501N

c.4502G>A

1 paper

NM_004304.5

p.T1506A

c.4516A>G

1 paper

NM_004304.5

p.G1508C

c.4522G>T

4 papers

NM_004304.5

p.G1508S

c.4522G>A

1 paper

NM_004304.5

p.K1498R

c.4493A>G

1 paper

NM_004304.5

p.K1498E

c.4492A>G

1 paper

NM_004304.5

p.S1509S

c.4527C>T

1 paper

NM_004304.5

p.N1497K

c.4491C>G

1 paper

NM_004304.5

p.N1497K

c.4491C>A