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

1 paper

NM_003618.4

p.K487N

c.1461A>C

Surrounding Variants

1 paper

NM_003618.4

p.K487N

c.1461A>T

1 paper

NM_003618.4

p.P488L

c.1463C>T

1 paper

NM_003618.4

p.P488H

c.1463C>A

1 paper

NM_003618.4

p.A490V

c.1469C>T

1 paper

NM_003618.4

p.P485A

c.1453C>G

1 paper

NM_003618.4

p.P485fs

c.1453_1454fs

1 paper

NM_003618.4

p.P484A

c.1450C>G

1 paper

NM_003618.4

p.P481A

c.1441C>G

1 paper

NM_003618.4

p.P476A

c.1426C>G

2 papers

NM_003618.4

p.Q473H

c.1419A>T

2 papers

NM_003618.4

p.Q473H

c.1419A>C

1 paper

NM_003618.4

p.G466A

c.1397G>C