Varaico: Literature-Extracted Genetic Variants

Gene:MAP4K4
Variant:p.L524fs

MAP4K4

220 papers

RefSeq Summary

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is fou...

Pfam Domains

Pkinaseaa 25–289UCSCProtein kinase domain
CNHaa 1080–1354UCSCCNH domain

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase kinase kinase 4

HGNC Alias Symbols

HGK; NIK; FLH21957

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001395002.1
p.L524fs
c.1570_1571fs
Surrounding Variants
1 paper
NM_001395002.1
p.L524delFs
c.1570_1571delCT
1 paper
NM_001395002.1
p.L521H
c.1562T>A
1 paper
NM_001395002.1
p.Q515E
c.1543C>G
1 paper
NM_001395002.1
p.Q511Q
c.1533G>A
1 paper
NM_001395002.1
p.Q538*
c.1612C>T
1 paper
NM_001395002.1
p.Q538Q
c.1614G>A
1 paper
NM_001395002.1
p.R505W
c.1513C>T
1 paper
NM_001395002.1
p.E545K
c.1633G>A
3 papers
NM_001395002.1
p.R497*
c.1489C>T
1 paper
NM_001395002.1
p.E561E
c.1683G>A
1 paper
NM_001395002.1
p.R565G
c.1693C>G
1 paper
NM_001395002.1
p.R565Q
c.1694G>A
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