Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4

IRAK4

253 papers

RefSeq Summary

This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutati...

Pfam Domains

PK_Tyr_Ser-Thraa 187–454UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

interleukin 1 receptor associated kinase 4

HGNC Alias Symbol

NY-REN-64

Papers
RefSeq ID
Protein change
DNA change
1–12 of 213 variants
44 papers
NM_016123.4
p.Q293*
c.877C>T
12 papers
NM_016123.4
p.R12C
c.34C>T
11 papers
NM_016123.4
p.A428T
c.1282G>A
9 papers
NM_016123.4
p.Q143L
c.428A>T
9 papers
NM_016123.4
p.L396_L397Splc
c.1188+520A>G
8 papers
NM_016123.4
p.L274delFs
c.821delT
8 papers
NM_016123.4
p.D311N
c.931G>A
7 papers
NM_016123.4
p.Y48*
c.144C>A
7 papers
NM_016123.4
p.Y48*
c.144C>G
7 papers
NM_016123.4
p.G298D
c.893G>A
7 papers
NM_016123.4
p.R391H
c.1172G>A
7 papers
NM_016123.4
p.L396_L397Splc
c.1189-1G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."