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

2 papers

NM_001039469.3

p.S40L

c.119C>T

Surrounding Variants

2 papers

NM_001039469.3

p.A41S

c.121G>T

1 paper

NM_001039469.3

p.A41V

c.122C>T

1 paper

NM_001039469.3

p.N39delFs

c.115delA

2 papers

NM_001039469.3

p.T42S

c.125C>G

1 paper

NM_001039469.3

p.T42Fs

c.125delinsTTFs

1 paper

NM_001039469.3

p.R38_T42delFs

c.112_124del13

1 paper

NM_001039469.3

p.S43A

c.127T>G

1 paper

NM_001039469.3

p.R36Q

c.107G>A

1 paper

NM_001039469.3

p.D45_E46Fs

c.134_136delinsCCFs

1 paper

NM_001039469.3

p.I35fs

c.103_104fs

1 paper

NM_001039469.3

p.I35insFs

c.104dupT

3 papers

NM_001039469.3

p.E46K

c.136G>A