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.E169*

c.505G>T

Surrounding Variants

2 papers

NM_138554.5

p.E169V

c.506A>T

1 paper

NM_138554.5

p.L167S

c.500T>C

1 paper

NM_138554.5

p.L167L

c.499T>C

1 paper

NM_138554.5

p.F171L

c.511T>C

1 paper

NM_138554.5

p.K166T

c.497A>C

1 paper

NM_138554.5

p.K166*

c.496A>T

1 paper

NM_138554.5

p.K166delFs

c.497delA

1 paper

NM_138554.5

p.S172S

c.516T>A

1 paper

NM_138554.5

p.N173K

c.519T>A

1 paper

NM_138554.5

p.N173_L174insFs

c.519_520insA

1 paper

NM_003266.4

p.Q123H

c.369A>C

1 paper

NM_138554.5

p.N176_L182delFs

c.526_544del19