Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.E439A

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.E439A
c.1316A>C
Surrounding Variants
1 paper
NM_138554.5
p.E439G
c.1316A>G
2 papers
NM_138554.5
p.E439V
c.1316A>T
2 papers
NM_138554.5
p.E439*
c.1315G>T
1 paper
NM_138554.5
p.F440V
c.1318T>G
1 paper
NM_138554.5
p.S441*
c.1322C>A
1 paper
NM_138554.5
p.S441*
c.1322C>G
1 paper
NM_138554.5
p.S441L
c.1322C>T
3 papers
NM_138554.5
p.Q436R
c.1307A>G
1 paper
NM_138554.5
p.V442A
c.1325T>C
6 papers
NM_138554.5
p.Q436*
c.1306C>T
1 paper
NM_138554.5
p.F443I
c.1327T>A
5 papers
NM_003266.4
p.F403L
c.1207T>C
NM_138554.5
p.F443L
c.1327T>C
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