Varaico: Literature-Extracted Genetic Variants

Gene:TLR4
Variant:p.D453G

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_8aa 55–114UCSCLeucine rich repeat
LRR_4aa 150–197UCSCLeucine Rich repeats (2 copies)
LRR_4aa 150–197UCSCLeucine Rich repeats (2 copies)
LRR_8aa 447–508UCSCLeucine rich repeat
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
1 paper
NM_138554.5
p.D453G
c.1358A>G
Surrounding Variants
1 paper
NM_138554.5
p.L452P
c.1355T>C
2 papers
NM_138554.5
p.L452R
c.1355T>G
1 paper
NM_138554.5
p.S455F
c.1364C>T
1 paper
NM_138554.5
p.S455S
c.1365T>C
1 paper
NM_138554.5
p.H456Y
c.1366C>T
10 papers
NM_138554.5
p.I450I
c.1350T>C
1 paper
NM_138554.5
p.H458L
c.1373A>T
1 paper
NM_138554.5
p.T459A
c.1375A>G
1 paper
NM_138554.5
p.R447*
c.1339A>T
2 papers
NM_138554.5
p.T459T
c.1377C>T
1 paper
NM_138554.5
p.L446V
c.1336C>G
1 paper
NM_138554.5
p.V461L
c.1381G>C
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