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

1–12 of 312 variants

6 papers

NM_003618.4

p.A410T

c.1228G>A

3 papers

NM_003618.4

p.Y125C

c.374A>G

3 papers

NM_003618.4

p.D196N

c.586G>A

3 papers

NM_003618.4

p.V200L

c.598G>T

3 papers

NM_003618.4

p.V200L

c.598G>C

3 papers

NM_003618.4

p.K650R

c.1949A>G

2 papers

NM_003618.4

p.A163G

c.488C>G

2 papers

NM_003618.4

p.S170A

c.508T>G

2 papers

NM_003618.4

p.R328H

c.983G>A

2 papers

NM_003618.4

p.F333Splc

c.998-9C>T

2 papers

NM_003618.4

p.Q473H

c.1419A>T

2 papers

NM_003618.4

p.Q473H

c.1419A>C