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.L240F

c.718C>T

Surrounding Variants

1 paper

NM_001039469.3

p.I239_L240delFs

c.717_720del4

1 paper

NM_001039469.3

p.I239insFs

c.715dupA

1 paper

NM_001039469.3

p.T242K

c.725C>A

1 paper

NM_001039469.3

p.L243delFs

c.728delT

1 paper

NM_001039469.3

p.G237R

c.709G>A

1 paper

NM_001039469.3

p.S245G

c.733A>G

2 papers

NM_001039469.3

p.S245S

c.735C>T

1 paper

NM_001039469.3

p.G246delFs

c.736delG

1 paper

NM_001039469.3

p.V233delFs

c.699delG

1 paper

NM_001039469.3

p.V233fs

c.697_698fs

1 paper

NM_001039469.3

p.S247A

c.739T>G

1 paper

NM_001039469.3

p.S247F

c.740C>T