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

10 papers

NM_138554.5

p.Q510H

c.1530G>T

NM_003266.4

p.Q470H

c.1410G>T

Surrounding Variants

9 papers

NM_138554.5

p.Q510H

c.1530G>C

NM_003266.4

p.Q470H

c.1410G>C

1 paper

NM_138554.5

p.C506*

c.1518T>A

2 papers

NM_138554.5

p.C506W

c.1518T>G

1 paper

NM_138554.5

p.A515T

c.1543G>A

2 papers

NM_138554.5

p.Q505R

c.1514A>G

1 paper

NM_138554.5

p.S504P

c.1510T>C

3 papers

NM_138554.5

p.L498V

c.1492T>G

1 paper

NM_138554.5

p.L525V

c.1573C>G

1 paper

NM_138554.5

p.L495P

c.1484T>C

1 paper

NM_138554.5

p.S528R

c.1582A>C

1 paper

NM_138554.5

p.F492L

c.1476C>A

1 paper

NM_138554.5

p.S528R

c.1584C>A