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.K31K

c.93G>A

Surrounding Variants

1 paper

NM_001039469.3

p.K31E

c.91A>G

1 paper

NM_001039469.3

p.N33Fs

c.97_98delinsCFs

2 papers

NM_001039469.3

p.M34K

c.101T>A

1 paper

NM_001039469.3

p.I35fs

c.103_104fs

1 paper

NM_001039469.3

p.I35insFs

c.104dupT

1 paper

NM_001039469.3

p.P28T

c.82C>A

1 paper

NM_001039469.3

p.K27N

c.81G>C

1 paper

NM_001039469.3

p.K27M

c.80A>T

1 paper

NM_001039469.3

p.R36Q

c.107G>A

1 paper

NM_001039469.3

p.S26S

c.78C>G

1 paper

NM_001039469.3

p.S26delFs

c.78delC

1 paper

NM_001039469.3

p.R38_T42delFs

c.112_124del13