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.Y226H

c.676T>C

Surrounding Variants

1 paper

NM_001039469.3

p.D227insFs

c.679_680insAG

1 paper

NM_001039469.3

p.D227insFs

c.680dupA

1 paper

NM_001039469.3

p.D227A

c.680A>C

1 paper

NM_001039469.3

p.K224E

c.670A>G

1 paper

NM_001039469.3

p.K224*

c.670A>T

1 paper

NM_001039469.3

p.G223D

c.668G>A

1 paper

NM_001039469.3

p.G223A

c.668G>C

1 paper

NM_001039469.3

p.Q222Q

c.666G>A

1 paper

NM_001039469.3

p.V231_V233del0

c.691_699del9

1 paper

NM_001039469.3

p.E230E

c.690G>A

1 paper

NM_001039469.3

p.F221Y

c.662T>A

1 paper

NM_001039469.3

p.V231M

c.691G>A