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

3 papers

NM_138554.5

p.C246S

c.736T>A

Surrounding Variants

3 papers

NM_138554.5

p.C246S

c.737G>C

1 paper

NM_138554.5

p.C246C

c.738T>C

1 paper

NM_138554.5

p.K244R

c.731A>G

8 papers

NM_138554.5

p.Q248R

c.743A>G

5 papers

NM_138554.5

p.M243I

c.729G>C

1 paper

NM_138554.5

p.G249D

c.746G>A

1 paper

NM_138554.5

p.N241S

c.722A>G

1 paper

NM_138554.5

p.N241I

c.722A>T

2 papers

NM_138554.5

p.N241H

c.721A>C

1 paper

NM_138554.5

p.A251T

c.751G>A

2 papers

NM_138554.5

p.L240F

c.720A>C

1 paper

NM_138554.5

p.L240F

c.720A>T