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.K376R

c.1127A>G

Surrounding Variants

1 paper

NM_001039469.3

p.L375L

c.1125G>T

1 paper

NM_001039469.3

p.P377P

c.1131C>T

1 paper

NM_001039469.3

p.R378_P379del2

c.1132_1136del6

1 paper

NM_001039469.3

p.T374A

c.1120A>G

2 papers

NM_001039469.3

p.T374fs

c.1120_1121fs

1 paper

NM_001039469.3

p.T374delFs

c.1120delA

1 paper

NM_001039469.3

p.I373_T374insA

c.1117_1121ins3

1 paper

NM_001039469.3

p.G370R

c.1108G>C

1 paper

NM_001039469.3

p.D382E

c.1146T>A

1 paper

NM_001039469.3

p.D382E

c.1146T>G

1 paper

NM_001039469.3

p.L368delFs

c.1103delT

1 paper

NM_001039469.3

p.E367_L368Splc

c.1102-1G>C