Varaico: Literature-Extracted Genetic Variants

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_4aa 150–197UCSCLeucine Rich repeats (2 copies)

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.L43L

c.129G>A

Surrounding Variants

2 papers

NM_138554.5

p.L43L

c.129G>C

1 paper

NM_138554.5

p.L43L

c.129G>T

1 paper

NM_138554.5

p.N44D

c.130A>G

1 paper

NM_138554.5

p.N44S

c.131A>G

1 paper

NM_138554.5

p.E42D

c.126G>C

1 paper

NM_138554.5

p.E42G

c.125A>G

1 paper

NM_138554.5

p.F45I

c.133T>A

1 paper

NM_138554.5

p.E42*

c.124G>T

1 paper

NM_138554.5

p.F45Y

c.134T>A

6 papers

NM_138554.5

p.Y46C

c.137A>G

1 paper

NM_138554.5

p.Y46Y

c.138C>T

1 paper

NM_138554.5

p.C40S

c.119G>C