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.Y53_R54insFs

c.159_160ins4

Surrounding Variants

1 paper

NM_001039469.3

p.Y53insFs

c.157_158insT

1 paper

NM_001039469.3

p.N52T

c.155A>C

2 papers

NM_001039469.3

p.Y53H

c.157T>C

1 paper

NM_001039469.3

p.N52Y

c.154A>T

1 paper

NM_001039469.3

p.Y53Y

c.159C>T

1 paper

NM_001039469.3

p.R54R

c.160C>A

2 papers

NM_001039469.3

p.R54Q

c.161G>A

2 papers

NM_001039469.3

p.L55F

c.163C>T

1 paper

NM_001039469.3

p.I50T

c.149T>C

1 paper

NM_001039469.3

p.L55H

c.164T>A

1 paper

NM_001039469.3

p.H49Q

c.147C>A

2 papers

NM_001039469.3

p.H49Q

c.147C>G