Varaico: Literature-Extracted Genetic Variants

Gene:IRAK2
Variant:p.L392V

IRAK2

119 papers

RefSeq Summary

IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is repo...

Pfam Domains

Deathaa 13–94UCSCDeath domain
Pkinaseaa 210–463UCSCProtein kinase domain

Gene Aliases

HGNC Name

interleukin 1 receptor associated kinase 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
20 papers
NM_001570.4
p.L392V
c.1174C>G
Surrounding Variants
1 paper
NM_001570.4
p.V389_G390insFs
c.1167_1168insC
1 paper
NM_001570.4
p.L358M
c.1072C>A
1 paper
NM_001570.4
p.S338Splc
c.1014-1G>T
1 paper
NM_001570.4
p.I403_V404Splc
c.1209+542T>C
2 papers
NM_001570.4
p.L329V
c.985C>G
1 paper
NM_001570.4
p.R312H
c.935G>A
1 paper
NM_001570.4
p.W309_P310ins10
c.925_929ins30
1 paper
NM_001570.4
p.I403_V404Splc
c.1210-38C>T
1 paper
NM_001570.4
p.E407K
c.1219G>A
1 paper
NM_001570.4
p.P421L
c.1262C>T
1 paper
NM_001570.4
p.L424_K425Splc
c.1272+660T>C
1 paper
NM_001570.4
p.P271_C276del0
c.811_828del18
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