Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.G726C

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.G726C
c.2176G>T
Surrounding Variants
1 paper
NM_138554.5
p.G726V
c.2177G>T
1 paper
NM_138554.5
p.E725A
c.2174A>C
3 papers
NM_138554.5
p.F727V
c.2179T>G
1 paper
NM_138554.5
p.F727F
c.2181C>T
1 paper
NM_138554.5
p.H728N
c.2182C>A
1 paper
NM_138554.5
p.H728D
c.2182C>G
2 papers
NM_138554.5
p.I722V
c.2164A>G
1 paper
NM_003266.4
p.R691G
c.2071C>G
3 papers
NM_138554.5
p.R731*
c.2191C>T
2 papers
NM_138554.5
p.R731Q
c.2192G>A
1 paper
NM_138554.5
p.A720V
c.2159C>T
1 paper
NM_138554.5
p.K732Q
c.2194A>C
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