Varaico: Literature-Extracted Genetic Variants

MAP4K3

104 papers

RefSeq Summary

This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced ...

Pfam Domains

Pkinaseaa 1–210UCSCProtein kinase domain

Pkinaseaa 16–273UCSCProtein kinase domain

CNHaa 571–863UCSCCNH domain

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase kinase kinase 3

HGNC Previous Symbol

RAB8IPL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_003618.4

p.V200L

c.598G>C

Surrounding Variants

3 papers

NM_003618.4

p.V200L

c.598G>T

1 paper

NM_003618.4

p.V200A

c.599T>C

1 paper

NM_003618.4

p.A199E

c.596C>A

1 paper

NM_003618.4

p.A199T

c.595G>A

1 paper

NM_003618.4

p.G201V

c.602G>T

1 paper

NM_003618.4

p.T203A

c.607A>G

1 paper

NM_003618.4

p.D196E

c.588T>G

1 paper

NM_003618.4

p.D196E

c.588T>A

1 paper

NM_003618.4

p.D196Y

c.586G>T

3 papers

NM_003618.4

p.D196N

c.586G>A

1 paper

NM_003618.4

p.E206Q

c.616G>C

1 paper

NM_003618.4

p.Q193H

c.579A>T