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

3 papers

NM_001039469.3

p.Q18L

c.53A>T

Surrounding Variants

1 paper

NM_001039469.3

p.Q18R

c.53A>G

1 paper

NM_001039469.3

p.Q18*

c.52C>T

1 paper

NM_001039469.3

p.E17G

c.50A>G

1 paper

NM_001039469.3

p.T16T

c.48G>A

1 paper

NM_001039469.3

p.T16insFs

c.47_48ins7

1 paper

NM_001039469.3

p.D15_T16insFs

c.45_46insT

1 paper

NM_001039469.3

p.D15D

c.45C>T

1 paper

NM_001039469.3

p.R14S

c.42G>C

1 paper

NM_001039469.3

p.R14S

c.42G>T

3 papers

NM_001039469.3

p.E13K

c.37G>A

2 papers

NM_001039469.3

p.E13*

c.37G>T

1 paper

NM_001039469.3

p.N12_E13insFs

c.36_37insC