Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.K224N

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
4 papers
NM_138554.5
p.K224N
c.672A>C
Surrounding Variants
1 paper
NM_138554.5
p.K224N
c.672A>T
1 paper
NM_138554.5
p.E225K
c.673G>A
1 paper
NM_138554.5
p.E225*
c.673G>T
1 paper
NM_138554.5
p.K224E
c.670A>G
1 paper
NM_138554.5
p.E225D
c.675A>C
1 paper
NM_138554.5
p.E225D
c.675A>T
1 paper
NM_138554.5
p.F223F
c.669T>C
1 paper
NM_138554.5
p.I226V
c.676A>G
1 paper
NM_138554.5
p.I226S
c.677T>G
1 paper
NM_138554.5
p.R227W
c.679A>T
1 paper
NM_138554.5
p.A222V
c.665C>T
1 paper
NM_138554.5
p.R227R
c.681G>A
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