Varaico: Literature-Extracted Genetic Variants

MARK2

1,200 papers

RefSeq Summary

This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stabi...

Pfam Domains

Pkinaseaa 53–304UCSCProtein kinase domain

UBAaa 324–360UCSCUBA/TS-N domain

KA1aa 744–788UCSCKinase associated domain 1

Gene Aliases

HGNC Name

microtubule affinity regulating kinase 2

HGNC Previous Symbol

EMK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001039469.3

p.F271fs

c.811_812fs

Surrounding Variants

1 paper

NM_001039469.3

p.F271delFs

c.812delT

9 papers

NM_001039469.3

p.Y272*

c.816C>A

9 papers

NM_001039469.3

p.Y272*

c.816C>G

1 paper

NM_001039469.3

p.Y272Y

c.816C>T

1 paper

NM_001039469.3

p.R268R

c.804T>A

1 paper

NM_001039469.3

p.M273T

c.818T>C

1 paper

NM_001039469.3

p.R268_I269insFs

c.804_805insG

1 paper

NM_001039469.3

p.R268H

c.803G>A

2 papers

NM_001039469.3

p.R268C

c.802C>T

1 paper

NM_001039469.3

p.S274A

c.820T>G

1 paper

NM_001039469.3

p.Y267insFs

c.800_801insA

1 paper

NM_001039469.3

p.D276A

c.827A>C