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.V475fs

c.1423_1424fs

Surrounding Variants

1 paper

NM_001039469.3

p.V475delFs

c.1425delC

1 paper

NM_001039469.3

p.S474delFs

c.1422delC

5 papers

NM_001039469.3

p.L476F

c.1426C>T

1 paper

NM_001039469.3

p.S477A

c.1429T>G

1 paper

NM_001039469.3

p.S477fs

c.1429_1430fs

1 paper

NM_001039469.3

p.R484W

c.1450A>T

1 paper

NM_001039469.3

p.R484Fs

c.1451_1452delinsCFs

1 paper

NM_001039469.3

p.P487insFs

c.1460dupC

1 paper

NM_001039469.3

p.L488F

c.1462C>T

1 paper

NM_001039469.3

p.L489_E490del1

c.1467_1469delGGA

1 paper

NM_001039469.3

p.R491Q

c.1472G>A

1 paper

NM_001039469.3

p.R491insFs

c.1472_1473insA