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.R71_H72insFs

c.213_214insT

Surrounding Variants

1 paper

NM_001039469.3

p.R71R

c.213A>T

1 paper

NM_001039469.3

p.R71fs

c.211_212fs

1 paper

NM_001039469.3

p.R71*

c.211C>T

1 paper

NM_001039469.3

p.I73M

c.219C>G

1 paper

NM_001039469.3

p.L69*

c.206T>A

1 paper

NM_001039469.3

p.L69V

c.205T>G

1 paper

NM_001039469.3

p.L74R

c.221T>G

1 paper

NM_001039469.3

p.V67M

c.199G>A

1 paper

NM_001039469.3

p.K77E

c.229A>G

1 paper

NM_001039469.3

p.K66M

c.197A>T

2 papers

NM_001039469.3

p.K77I

c.230A>T

2 papers

NM_001039469.3

p.E78*

c.232G>T