Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.E178D

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.E178D
c.534G>T
Surrounding Variants
1 paper
NM_138554.5
p.H179D
c.535C>G
1 paper
NM_138554.5
p.L177L
c.531A>G
1 paper
NM_138554.5
p.L177L
c.529C>T
1 paper
NM_138554.5
p.N176T
c.527A>C
1 paper
NM_138554.5
p.D181Y
c.541G>T
1 paper
NM_138554.5
p.N176fs
c.526_527fs
1 paper
NM_138554.5
p.D181E
c.543C>A
1 paper
NM_138554.5
p.D181E
c.543C>G
5 papers
NM_138554.5
p.T175A
c.523A>G
1 paper
NM_138554.5
p.S183A
c.547T>G
1 paper
NM_138554.5
p.N176_L182delFs
c.526_544del19
1 paper
NM_138554.5
p.N173K
c.519T>A
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