Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.G383fs

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.G383fs
c.1147_1148fs
Surrounding Variants
1 paper
NM_016123.4
p.G383fs
c.1147_1148fs
2 papers
NM_016123.4
p.T382delFs
c.1146delT
1 paper
NM_016123.4
p.E379*
c.1135G>T
2 papers
NM_016123.4
p.E389_H390insFs
c.1167_1168insC
1 paper
NM_016123.4
p.H390R
c.1169A>G
1 paper
NM_016123.4
p.V375_V376Splc
c.1126-1G>T
2 papers
NM_016123.4
p.R391C
c.1171C>T
7 papers
NM_016123.4
p.R391H
c.1172G>A
2 papers
NM_016123.4
p.E392K
c.1174G>A
1 paper
NM_016123.4
p.Q394*
c.1180C>T
9 papers
NM_016123.4
p.L396_L397Splc
c.1188+520A>G
1 paper
NM_016123.4
p.G374S
c.1120G>A
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