Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.S275A

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.S275A
c.823T>G
Surrounding Variants
2 papers
NM_138554.5
p.K274N
c.822A>C
2 papers
NM_138554.5
p.K274N
c.822A>T
1 paper
NM_138554.5
p.A276T
c.826G>A
5 papers
NM_138554.5
p.D273D
c.819C>T
1 paper
NM_138554.5
p.L277L
c.831A>T
1 paper
NM_138554.5
p.K271T
c.812A>C
1 paper
NM_138554.5
p.K271_A276del0
c.811_828del18
1 paper
NM_138554.5
p.G279D
c.836G>A
1 paper
NM_138554.5
p.E270A
c.809A>C
3 papers
NM_138554.5
p.L280M
c.838C>A
1 paper
NM_138554.5
p.L269L
c.807G>A
1 paper
NM_138554.5
p.N268K
c.804C>A
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