Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.S317N

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
2 papers
NM_138554.5
p.S317N
c.950G>A
Surrounding Variants
1 paper
NM_138554.5
p.S317insFs
c.949_950insA
1 paper
NM_138554.5
p.V318E
c.953T>A
1 paper
NM_138554.5
p.L315L
c.945G>A
1 paper
NM_138554.5
p.T319N
c.956C>A
1 paper
NM_138554.5
p.L315insFs
c.944_945insG
1 paper
NM_138554.5
p.I320S
c.959T>G
1 paper
NM_138554.5
p.I320I
c.960T>C
2 papers
NM_138554.5
p.E321G
c.962A>G
1 paper
NM_138554.5
p.S312A
c.934T>G
1 paper
NM_138554.5
p.S311insFs
c.931_932insA
2 papers
NM_138554.5
p.V310G
c.929T>G
1 paper
NM_138554.5
p.V310F
c.928G>T
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