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.P249_D251del0

c.746_751del6

Surrounding Variants

1 paper

NM_001039469.3

p.P249_F250del0

c.745_750del6

1 paper

NM_001039469.3

p.L248L

c.742C>T

1 paper

NM_001039469.3

p.S247F

c.740C>T

1 paper

NM_001039469.3

p.S247A

c.739T>G

1 paper

NM_001039469.3

p.G252R

c.754G>A

1 paper

NM_001039469.3

p.G252R

c.754G>C

2 papers

NM_001039469.3

p.S245S

c.735C>T

1 paper

NM_001039469.3

p.G246delFs

c.736delG

1 paper

NM_001039469.3

p.S245G

c.733A>G

1 paper

NM_001039469.3

p.Q253*

c.757C>T

1 paper

NM_001039469.3

p.N254T

c.761A>C

1 paper

NM_001039469.3

p.L255F

c.763C>T