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.L1165H

c.3494T>A

Surrounding Variants

1 paper

NM_004304.5

p.L1165P

c.3494T>C

1 paper

NM_004304.5

p.F1164L

c.3492C>G

1 paper

NM_004304.5

p.F1164L

c.3492C>A

20 papers

NM_004304.5

p.M1166R

c.3497T>G

1 paper

NM_004304.5

p.M1166T

c.3497T>C

1 paper

NM_004304.5

p.F1164S

c.3491T>C

1 paper

NM_004304.5

p.F1164V

c.3490T>G

1 paper

NM_004304.5

p.F1164L

c.3490T>C

1 paper

NM_004304.5

p.E1167K

c.3499G>A

1 paper

NM_004304.5

p.E1167A

c.3500A>C

1 paper

NM_004304.5

p.D1163N

c.3487G>A

1 paper

NM_004304.5

p.A1168S

c.3502G>T