Varaico: Literature-Extracted Genetic Variants

Gene:MAP4K3
Variant:p.Q473H

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.Q473H
c.1419A>C
Surrounding Variants
2 papers
NM_003618.4
p.Q473H
c.1419A>T
1 paper
NM_003618.4
p.P476A
c.1426C>G
1 paper
NM_003618.4
p.G466A
c.1397G>C
1 paper
NM_003618.4
p.P481A
c.1441C>G
1 paper
NM_003618.4
p.S465P
c.1393T>C
1 paper
NM_003618.4
p.M464I
c.1392G>T
1 paper
NM_003618.4
p.M464I
c.1392G>C
1 paper
NM_003618.4
p.M464I
c.1392G>A
1 paper
NM_003618.4
p.P484A
c.1450C>G
1 paper
NM_001270425.2
p.C441S
c.1322G>C
1 paper
NM_003618.4
p.P485A
c.1453C>G
1 paper
NM_003618.4
p.P485fs
c.1453_1454fs
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