Varaico: Literature-Extracted Genetic Variants

Gene:TLR3
Variant:p.L412P

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
3 papers
NM_003265.3
p.L412P
c.1235T>C
Surrounding Variants
5 papers
NM_003265.3
p.L412V
c.1234C>G
206 papers
NM_003265.3
p.L412F
c.1234C>T
2 papers
NM_003265.3
p.L412L
c.1236C>T
1 paper
NM_003265.3
p.N413D
c.1237A>G
1 paper
NM_003265.3
p.S420_A426del7
c.1258_1277del21
1 paper
NM_003265.3
p.K421E
c.1261A>G
1 paper
NM_003265.3
p.K421*
c.1261A>T
1 paper
NM_003265.3
p.I422T
c.1265T>C
1 paper
NM_003265.3
p.E399_T400delins
c.1196_1198delinsTTT
2 papers
NM_003265.3
p.R394Q
c.1181G>A
2 papers
NM_003265.3
p.R394*
c.1180C>T
2 papers
NM_003265.3
p.H432R
c.1295A>G
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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."