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.K394insFs

c.1181dupA

Surrounding Variants

2 papers

NM_001039469.3

p.V395fs

c.1183_1184fs

1 paper

NM_001039469.3

p.S392A

c.1174T>G

1 paper

NM_001039469.3

p.P391P

c.1173A>G

1 paper

NM_001039469.3

p.P389T

c.1165C>A

2 papers

NM_001039469.3

p.S400A

c.1198T>G

1 paper

NM_001039469.3

p.S386N

c.1157G>A

1 paper

NM_001039469.3

p.A401T

c.1201G>A

1 paper

NM_001039469.3

p.D382E

c.1146T>A

1 paper

NM_001039469.3

p.D382E

c.1146T>G

4 papers

NM_001039469.3

p.R406W

c.1216C>T

1 paper

NM_001039469.3

p.R406Q

c.1217G>A

1 paper

NM_001039469.3

p.R406P

c.1217G>C