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.A216fs

c.646_647fs

Surrounding Variants

1 paper

NM_001039469.3

p.Y215_A216insFs

c.645_646insA

1 paper

NM_001039469.3

p.Y215S

c.644A>C

1 paper

NM_001039469.3

p.A216_A217delins

c.648_649delinsCT

1 paper

NM_001039469.3

p.A217S

c.649G>T

1 paper

NM_001039469.3

p.A217D

c.650C>A

1 paper

NM_001039469.3

p.P213_P214insT

c.637_641ins3

1 paper

NM_001039469.3

p.L220F

c.658C>T

2 papers

NM_001039469.3

p.L220P

c.659T>C

2 papers

NM_001039469.3

p.G211D

c.632G>A

1 paper

NM_001039469.3

p.G211S

c.631G>A

1 paper

NM_001039469.3

p.F221Y

c.662T>A

1 paper

NM_001039469.3

p.Q222Q

c.666G>A