Varaico: Literature-Extracted Genetic Variants

Gene:IRAK1
Variant:p.S532L

IRAK1

294 papers

RefSeq Summary

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

Pfam Domains

Deathaa 27–103UCSCDeath domain
Pkinaseaa 212–517UCSCProtein kinase domain

Gene Aliases

HGNC Name

interleukin 1 receptor associated kinase 1

HGNC Alias Symbol

pelle

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
20 papers
NM_001569.4
p.S532L
c.1595C>T
Surrounding Variants
1 paper
NM_001569.4
p.P540fs
c.1618_1619fs
1 paper
NM_001569.4
p.P540delFs
c.1619delG
1 paper
NM_001569.4
p.S541A
c.1621T>G
1 paper
NM_001569.4
p.Q522Q
c.1566G>A
1 paper
NM_001569.4
p.Q522R
c.1565A>G
2 papers
NM_001569.4
p.E544A
c.1631A>C
1 paper
NM_001569.4
p.E516Q
c.1546G>C
1 paper
NM_001569.4
p.Y515F
c.1544A>T
1 paper
NM_001569.4
p.Y515C
c.1544A>G
1 paper
NM_001569.4
p.R553*
c.1657A>T
1 paper
NM_001569.4
p.P585P
c.1755C>A
1 paper
NM_001569.4
p.V586M
c.1756G>A
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