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

2 papers

NM_004304.5

p.G1600V

c.4799G>T

Surrounding Variants

1 paper

NM_004304.5

p.A1601P

c.4801G>C

1 paper

NM_004304.5

p.A1601T

c.4801G>A

4 papers

NM_004304.5

p.P1599H

c.4796C>A

3 papers

NM_004304.5

p.P1599S

c.4795C>T

1 paper

NM_004304.5

p.G1602S

c.4804G>A

1 paper

NM_004304.5

p.Y1604C

c.4811A>G

1 paper

NM_004304.5

p.A1596T

c.4786G>A

1 paper

NM_004304.5

p.Y1604*

c.4812C>G

2 papers

NM_004304.5

p.Y1604*

c.4812C>A

2 papers

NM_004304.5

p.E1605K

c.4813G>A

3 papers

NM_004304.5

p.A1595A

c.4785C>T

2 papers

NM_004304.5

p.E1605V

c.4814A>T