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.S317*

c.950C>A

Surrounding Variants

1 paper

NM_003618.4

p.S317L

c.950C>T

1 paper

NM_003618.4

p.S317*

c.950C>G

1 paper

NM_003618.4

p.R320K

c.959G>A

1 paper

NM_003618.4

p.V322M

c.964G>A

1 paper

NM_003618.4

p.P312S

c.934C>T

1 paper

NM_003618.4

p.V309V

c.927T>C

1 paper

NM_003618.4

p.R328C

c.982C>T

1 paper

NM_003618.4

p.R328L

c.983G>T

2 papers

NM_003618.4

p.R328H

c.983G>A

1 paper

NM_003618.4

p.E330K

c.988G>A

2 papers

NM_003618.4

p.F333Splc

c.998-9C>T

1 paper

NM_003618.4

p.F333Splc

c.998-1G>T