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

9 papers

NM_138554.5

p.H199H

c.597T>C

Surrounding Variants

1 paper

NM_138554.5

p.Q200H

c.600A>C

8 papers

NM_138554.5

p.L198I

c.592C>A

1 paper

NM_138554.5

p.L198fs

c.592_593fs

1 paper

NM_138554.5

p.V197D

c.590T>A

1 paper

NM_138554.5

p.V197A

c.590T>C

3 papers

NM_138554.5

p.V197I

c.589G>A

2 papers

NM_138554.5

p.L203I

c.607C>A

1 paper

NM_138554.5

p.R196Q

c.587G>A

1 paper

NM_138554.5

p.L204F

c.610C>T

5 papers

NM_138554.5

p.L204H

c.611T>A

2 papers

NM_138554.5

p.L195V

c.583T>G

1 paper

NM_138554.5

p.L204L

c.612C>A