Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.I48I

TLR4

2,554 papers

RefSeq Summary

The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved ...

Pfam Domains

LRR_8aa 55–114UCSCLeucine rich repeat
LRR_8aa 55–114UCSCLeucine rich repeat
LRR_4aa 150–197UCSCLeucine Rich repeats (2 copies)
LRR_4aa 150–197UCSCLeucine Rich repeats (2 copies)
LRR_8aa 447–508UCSCLeucine rich repeat
LRR_8aa 447–508UCSCLeucine rich repeat

Gene Aliases

HGNC Name

toll like receptor 4

HGNC Alias Symbols

hToll; CD284; TLR-4; ARMD10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138554.5
p.I48I
c.144C>A
Surrounding Variants
1 paper
NM_138554.5
p.P49T
c.145C>A
2 papers
NM_138554.5
p.P49S
c.145C>T
1 paper
NM_138554.5
p.I48N
c.143T>A
1 paper
NM_138554.5
p.I48L
c.142A>C
1 paper
NM_138554.5
p.I48V
c.142A>G
1 paper
NM_138554.5
p.P49P
c.147C>T
1 paper
NM_138554.5
p.K47I
c.140A>T
2 papers
NM_138554.5
p.D50N
c.148G>A
1 paper
NM_138554.5
p.Y46Y
c.138C>T
6 papers
NM_138554.5
p.Y46C
c.137A>G
1 paper
NM_138554.5
p.N51D
c.151A>G
1 paper
NM_138554.5
p.N51S
c.152A>G
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