Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.Y48C

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.Y48C
c.143A>G
Surrounding Variants
7 papers
NM_016123.4
p.Y48*
c.144C>A
7 papers
NM_016123.4
p.Y48*
c.144C>G
1 paper
NM_016123.4
p.Y48_F51insFs
c.143_152dup10
1 paper
NM_016123.4
p.D46N
c.136G>A
1 paper
NM_016123.4
p.D45Y
c.133G>T
1 paper
NM_016123.4
p.I53V
c.157A>G
1 paper
NM_016123.4
p.R54K
c.161G>A
1 paper
NM_016123.4
p.P42fs
c.124_125fs
2 papers
NM_016123.4
p.R54Splc
c.161+1G>A
5 papers
NM_016123.4
p.K40insFs
c.118_119insA
1 paper
NM_016123.4
p.I39V
c.115A>G
1 paper
NM_016123.4
p.V37E
c.110T>A
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