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.A1439T

c.4315G>A

Surrounding Variants

1 paper

NM_004304.5

p.A1439S

c.4315G>T

1 paper

NM_004304.5

p.A1440A

c.4320C>T

7 papers

NM_004304.5

p.R1436H

c.4307G>A

1 paper

NM_004304.5

p.P1441fs

c.4321_4322fs

1 paper

NM_004304.5

p.P1441delFs

c.4322delG

5 papers

NM_004304.5

p.R1436C

c.4306C>T

4 papers

NM_004304.5

p.E1435del1

c.4303_4304delCTC

1 paper

NM_004304.5

p.E1435V

c.4304A>T

1 paper

NM_004304.5

p.E1435Q

c.4303G>C

5 papers

NM_004304.5

p.E1435K

c.4303G>A

1 paper

NM_004304.5

p.E1434D

c.4302G>T

1 paper

NM_004304.5

p.P1445S

c.4333C>T