Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.D320Y

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
2 papers
NM_016123.4
p.D320Y
c.958G>T
Surrounding Variants
2 papers
NM_016123.4
p.L318F
c.954A>C
2 papers
NM_016123.4
p.L318F
c.954A>T
1 paper
NM_016123.4
p.L318*
c.953T>A
2 papers
NM_016123.4
p.L318S
c.953T>C
1 paper
NM_016123.4
p.L318insFs
c.952_953insA
1 paper
NM_016123.4
p.I317_A322del0
c.950_964del15
1 paper
NM_016123.4
p.A315_N316insFs
c.945_946insC
1 paper
NM_016123.4
p.S314Splc
c.942-1G>A
1 paper
NM_016123.4
p.K326insFs
c.977_978insC
1 paper
NM_016123.4
p.D329H
c.985G>C
4 papers
NM_016123.4
p.D329A
c.986A>C
1 paper
NM_016123.4
p.F330V
c.988T>G
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