Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.L621M

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.L621M
c.1861C>A
Surrounding Variants
1 paper
NM_138554.5
p.L621L
c.1861C>T
1 paper
NM_138554.5
p.V620_L621del2
c.1858_1862del6
1 paper
NM_138554.5
p.L623L
c.1869G>A
1 paper
NM_138554.5
p.N624T
c.1871A>C
1 paper
NM_138554.5
p.I625F
c.1873A>T
1 paper
NM_138554.5
p.G617C
c.1849G>T
4 papers
NM_138554.5
p.D614G
c.1841A>G
1 paper
NM_138554.5
p.D614N
c.1840G>A
1 paper
NM_138554.5
p.Q628Q
c.1884G>A
1 paper
NM_138554.5
p.N630S
c.1889A>G
2 papers
NM_138554.5
p.T611A
c.1831A>G
2 papers
NM_138554.5
p.A610V
c.1829C>T
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