Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.S559Y

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.S559Y
c.1676C>A
Surrounding Variants
1 paper
NM_138554.5
p.S559F
c.1676C>T
1 paper
NM_138554.5
p.K560R
c.1679A>G
2 papers
NM_138554.5
p.N554S
c.1661A>G
1 paper
NM_138554.5
p.H566Y
c.1696C>T
1 paper
NM_138557.3
p.F367delFs
c.1100delT
1 paper
NM_138554.5
p.Y551C
c.1652A>G
1 paper
NM_138554.5
p.P568T
c.1702C>A
1 paper
NM_138554.5
p.P568S
c.1702C>T
1 paper
NM_138554.5
p.D550A
c.1649A>C
1 paper
NM_138554.5
p.S570I
c.1709G>T
2 papers
NM_138554.5
p.L571P
c.1712T>C
1 paper
NM_138554.5
p.Q547K
c.1639C>A
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