Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.Q293*

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
Selected Variant
44 papers
NM_016123.4
p.Q293*
c.877C>T
Surrounding Variants
1 paper
NM_016123.4
p.A296V
c.887C>T
1 paper
NM_016123.4
p.R288G
c.862A>G
7 papers
NM_016123.4
p.G298D
c.893G>A
1 paper
NM_016123.4
p.M287I
c.861G>T
1 paper
NM_016123.4
p.I299_N300delFs
c.897_900del4
1 paper
NM_016123.4
p.N300fs
c.898_899fs
1 paper
NM_016123.4
p.L283F
c.847C>T
2 papers
NM_016123.4
p.E304K
c.910G>A
1 paper
NM_016123.4
p.D278Y
c.832G>T
1 paper
NM_016123.4
p.R310K
c.929G>A
8 papers
NM_016123.4
p.D311N
c.931G>A
1 paper
NM_016123.4
p.D311H
c.931G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."