Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.S151fs

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.S151fs
c.451_452fs
Surrounding Variants
1 paper
NM_016123.4
p.S151*
c.452C>A
1 paper
NM_016123.4
p.S151*
c.452C>G
1 paper
NM_016123.4
p.S151delFs
c.451delT
1 paper
NM_016123.4
p.E154*
c.460G>T
1 paper
NM_016123.4
p.Y145N
c.433T>A
1 paper
NM_016123.4
p.L158I
c.472T>A
9 papers
NM_016123.4
p.Q143L
c.428A>T
1 paper
NM_001145256.2
p.L17delFs
c.51delT
1 paper
NM_016123.4
p.D162A
c.485A>C
1 paper
NM_016123.4
p.R164Splc
c.490+1G>A
2 papers
NM_016123.4
p.K123_Q124insA
c.367_371ins3
2 papers
NM_016123.4
p.Q122*
c.364C>T
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