Varaico: Literature-Extracted Genetic Variants

MARK4

108 papers

RefSeq Summary

This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dyna...

Pfam Domains

Pkinaseaa 59–310UCSCProtein kinase domain

UBAaa 330–366UCSCUBA/TS-N domain

KA1aa 709–752UCSCKinase associated domain 1

Gene Aliases

HGNC Name

microtubule affinity regulating kinase 4

HGNC Previous Symbol

MARKL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001199867.2

p.A520fs

c.1558_1559fs

Surrounding Variants

4 papers

NM_001199867.2

p.P518L

c.1553C>T

1 paper

NM_001199867.2

p.P518delFs

c.1554delG

1 paper

NM_001199867.2

p.T507S

c.1520C>G

1 paper

NM_001199867.2

p.T507S

c.1519A>T

1 paper

NM_001199867.2

p.M505V

c.1513A>G

1 paper

NM_001199867.2

p.R556W

c.1666C>T

1 paper

NM_001199867.2

p.R558C

c.1672C>T

1 paper

NM_001199867.2

p.R558H

c.1673G>A

1 paper

NM_001199867.2

p.R561H

c.1682G>A

1 paper

NM_001199867.2

p.R575W

c.1723C>T

1 paper

NM_001199867.2

p.R578W

c.1732C>T

1 paper

NM_001199867.2

p.R578Q

c.1733G>A