Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.L498V

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
3 papers
NM_138554.5
p.L498V
c.1492T>G
Surrounding Variants
1 paper
NM_138554.5
p.L495P
c.1484T>C
1 paper
NM_138554.5
p.F492L
c.1476C>A
1 paper
NM_138554.5
p.F492L
c.1476C>G
1 paper
NM_138554.5
p.F492L
c.1474T>C
1 paper
NM_138554.5
p.S504P
c.1510T>C
2 papers
NM_138554.5
p.F492V
c.1474T>G
2 papers
NM_138554.5
p.Q505R
c.1514A>G
2 papers
NM_003266.4
p.D450D
c.1350T>C
NM_138554.5
p.D490D
c.1470T>C
1 paper
NM_138554.5
p.P489L
c.1466C>T
1 paper
NM_138554.5
p.C506*
c.1518T>A
2 papers
NM_138554.5
p.C506W
c.1518T>G
2 papers
NM_138554.5
p.F487L
c.1461C>A
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