Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.S100G

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.S100G
c.298A>G
Surrounding Variants
1 paper
NM_138554.5
p.S100C
c.298A>T
2 papers
NM_138554.5
p.S100N
c.299G>A
1 paper
NM_138554.5
p.Q99E
c.295C>G
2 papers
NM_138554.5
p.Y98C
c.293A>G
2 papers
NM_138554.5
p.Y98D
c.292T>G
1 paper
NM_138554.5
p.A97V
c.290C>T
5 papers
NM_138554.5
p.H103R
c.308A>G
1 paper
NM_138554.5
p.L104I
c.310C>A
1 paper
NM_138554.5
p.L104F
c.310C>T
1 paper
NM_138554.5
p.G96R
c.286G>A
1 paper
NM_138554.5
p.E94D
c.282A>C
1 paper
NM_138554.5
p.E94D
c.282A>T
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