Varaico: Literature-Extracted Genetic Variants

Gene:TLR3
Variant:p.S392G

TLR3

639 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 51–111UCSCLeucine rich repeat
LRR_8aa 274–332UCSCLeucine rich repeat
LRR_8aa 562–622UCSCLeucine rich repeat
Tlr3_TMDaa 698–730UCSCToll-like receptor 3 trans-membrane domain
TIRaa 755–895UCSCTIR domain

Gene Aliases

HGNC Name

toll like receptor 3

HGNC Alias Symbol

CD283

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003265.3
p.S392G
c.1174A>G
Surrounding Variants
2 papers
NM_003265.3
p.R394*
c.1180C>T
2 papers
NM_003265.3
p.R394Q
c.1181G>A
1 paper
NM_003265.3
p.S389_F390insFs
c.1167_1168insC
1 paper
NM_003265.3
p.E399_T400delins
c.1196_1198delinsTTT
1 paper
NM_003265.3
p.L384*
c.1151T>A
1 paper
NM_003265.3
p.L384*
c.1151T>G
1 paper
NM_003265.3
p.L381P
c.1142T>C
1 paper
NM_003265.3
p.G377E
c.1130G>A
1 paper
NM_003265.3
p.T376R
c.1127C>G
4 papers
NM_003265.3
p.M374T
c.1121T>C
5 papers
NM_003265.3
p.L412V
c.1234C>G
206 papers
NM_003265.3
p.L412F
c.1234C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."