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

2 papers

NM_003618.4

p.F333Splc

c.998-9C>T

Surrounding Variants

1 paper

NM_003618.4

p.F333Splc

c.998-1G>T

1 paper

NM_003618.4

p.G334D

c.1001G>A

1 paper

NM_003618.4

p.D339H

c.1015G>C

1 paper

NM_003618.4

p.D339G

c.1016A>G

1 paper

NM_003618.4

p.E345Q

c.1033G>C

1 paper

NM_003618.4

p.E347*

c.1039G>T

1 paper

NM_003618.4

p.E351*

c.1051G>T

1 paper

NM_003618.4

p.E351K

c.1051G>A

1 paper

NM_003618.4

p.L352_P353Splc

c.1057-5A>G

1 paper

NM_003618.4

p.D354N

c.1060G>A

1 paper

NM_003618.4

p.L359fs

c.1075_1076fs

1 paper

NM_003618.4

p.L359F

c.1077G>T