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.E78_V79Splc

c.235-2A>G

Surrounding Variants

1 paper

NM_001039469.3

p.A80T

c.238G>A

1 paper

NM_001039469.3

p.A80P

c.238G>C

2 papers

NM_001039469.3

p.A80V

c.239C>T

1 paper

NM_001039469.3

p.A80A

c.240T>A

1 paper

NM_001039469.3

p.V81delFs

c.243delG

1 paper

NM_001039469.3

p.K82insFs

c.244_245insT

1 paper

NM_001039469.3

p.K82E

c.244A>G

6 papers

NM_001039469.3

p.K82R

c.245A>G

1 paper

NM_001039469.3

p.I83T

c.248T>C

1 paper

NM_001039469.3

p.I84F

c.250A>T

1 paper

NM_001039469.3

p.I84N

c.251T>A

1 paper

NM_001039469.3

p.K86_T87insFs

c.258_259dupGA