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.V233delFs

c.699delG

Surrounding Variants

1 paper

NM_001039469.3

p.V233fs

c.697_698fs

1 paper

NM_001039469.3

p.V231M

c.691G>A

1 paper

NM_001039469.3

p.E230E

c.690G>A

1 paper

NM_001039469.3

p.V231_V233del0

c.691_699del9

1 paper

NM_001039469.3

p.G237R

c.709G>A

1 paper

NM_001039469.3

p.I239insFs

c.715dupA

1 paper

NM_001039469.3

p.D227A

c.680A>C

1 paper

NM_001039469.3

p.I239_L240delFs

c.717_720del4

1 paper

NM_001039469.3

p.D227insFs

c.680dupA

1 paper

NM_001039469.3

p.L240F

c.718C>T

1 paper

NM_001039469.3

p.D227insFs

c.679_680insAG

1 paper

NM_001039469.3

p.Y226H

c.676T>C