Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.Y262H

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
1 paper
NM_016123.4
p.Y262H
c.784T>C
Surrounding Variants
1 paper
NM_016123.4
p.Y262F
c.785A>T
1 paper
NM_016123.4
p.V261I
c.781G>A
1 paper
NM_016123.4
p.M265T
c.794T>C
1 paper
NM_016123.4
p.G255E
c.764G>A
1 paper
NM_016123.4
p.S269A
c.805T>G
2 papers
NM_016123.4
p.L271_C276del0
c.811_828del18
2 papers
NM_016123.4
p.G250D
c.749G>A
8 papers
NM_016123.4
p.L274delFs
c.821delT
1 paper
NM_016123.4
p.L274fs
c.820_821fs
1 paper
NM_016123.4
p.S275delFs
c.823delT
NM_001145256.2
p.S151delFs
c.451delT
1 paper
NM_016123.4
p.L249I
c.745C>A
1 paper
NM_001145256.2
p.S151fs
c.451_452fs
NM_016123.4
p.S275fs
c.823_824fs
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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."