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.F194Y

c.581T>A

Surrounding Variants

3 papers

NM_001039469.3

p.F194S

c.581T>C

1 paper

NM_001039469.3

p.G195R

c.583G>C

2 papers

NM_001039469.3

p.D193A

c.578A>C

1 paper

NM_001039469.3

p.D193delFs

c.578delA

1 paper

NM_001039469.3

p.A192E

c.575C>A

1 paper

NM_001039469.3

p.A192insFs

c.575_576insA

1 paper

NM_001039469.3

p.A192V

c.575C>T

2 papers

NM_001039469.3

p.S197N

c.590G>A

1 paper

NM_001039469.3

p.E199K

c.595G>A

1 paper

NM_001039469.3

p.I189delFs

c.565delA

1 paper

NM_001039469.3

p.M187L

c.559A>T

1 paper

NM_001039469.3

p.T201_F202insFs

c.603_604insG