Varaico: Literature-Extracted Genetic Variants

Gene:TLR3
Variant:p.E626K

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.E626K
c.1876G>A
Surrounding Variants
1 paper
NM_003265.3
p.K627R
c.1880A>G
1 paper
NM_003265.3
p.G631R
c.1891G>A
1 paper
NM_003265.3
p.G631R
c.1891G>C
1 paper
NM_003265.3
p.N620_L621del2
c.1858_1862del6
1 paper
NM_003265.3
p.S611T
c.1831T>A
2 papers
NM_003265.3
p.R643S
c.1927C>A
1 paper
NM_003265.3
p.Q609*
c.1825C>T
1 paper
NM_003265.3
p.R643H
c.1928G>A
1 paper
NM_003265.3
p.R643insFs
c.1928_1929insA
1 paper
NM_003265.3
p.P646P
c.1938C>T
2 papers
NM_003265.3
p.D648A
c.1943A>C
1 paper
NM_003265.3
p.C649S
c.1945T>A
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