Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.L303S

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.L303S
c.908T>C
Surrounding Variants
1 paper
NM_138554.5
p.L303V
c.907T>G
1 paper
NM_138554.5
p.F304L
c.910T>C
1 paper
NM_138554.5
p.F304V
c.910T>G
1 paper
NM_138554.5
p.N305fs
c.913_914fs
1 paper
NM_138554.5
p.N305insFs
c.914_915ins13
1 paper
NM_138554.5
p.N305T
c.914A>C
1 paper
NM_138554.5
p.N305S
c.914A>G
3 papers
NM_138554.5
p.N305I
c.914A>T
2 papers
NM_138554.5
p.I301T
c.902T>C
1 paper
NM_138554.5
p.I300M
c.900T>G
1 paper
NM_138554.5
p.C306_L307ins11
c.918_919ins33
2 papers
NM_138554.5
p.C306W
c.918T>G
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