Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.R12H

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.R12H
c.35G>A
Surrounding Variants
1 paper
NM_016123.4
p.R12P
c.35G>C
12 papers
NM_016123.4
p.R12C
c.34C>T
1 paper
NM_016123.4
p.R12_N15delFs
c.35_44del10
1 paper
NM_016123.4
p.C13Y
c.38G>A
1 paper
NM_016123.4
p.N15insFs
c.43_44insA
1 paper
NM_016123.4
p.Y10fs
c.28_29fs
1 paper
NM_016123.4
p.Y10fs
c.28_29fs
1 paper
NM_016123.4
p.Y10delFs
c.29_30delAT
1 paper
NM_016123.4
p.G17delFs
c.51delA
1 paper
NM_016123.4
p.L18Q
c.53T>A
1 paper
NM_016123.4
p.I5V
c.13A>G
3 papers
NM_016123.4
p.R20W
c.58A>T
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