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

1 paper

NM_001039469.3

p.P48delFs

c.144delC

Surrounding Variants

1 paper

NM_001039469.3

p.P48_H49del1

c.143_145delCCC

2 papers

NM_001039469.3

p.P48S

c.142C>T

1 paper

NM_001039469.3

p.Q47K

c.139C>A

1 paper

NM_001039469.3

p.Q47_P48ins7

c.139_143ins21

1 paper

NM_001039469.3

p.Q47*

c.139C>T

1 paper

NM_001039469.3

p.P48L

c.143C>T

1 paper

NM_001039469.3

p.Q47Fs

c.139delinsTTFs

1 paper

NM_001039469.3

p.P48_H49insFs

c.144_145ins5

1 paper

NM_001039469.3

p.I50_Y53del0

c.148_159del12

3 papers

NM_001039469.3

p.H49L

c.146A>T

3 papers

NM_001039469.3

p.E46K

c.136G>A

1 paper

NM_001039469.3

p.H49Q

c.147C>A