Varaico: Literature-Extracted Genetic Variants

Gene:TLR6
Variant:p.L324S

TLR6

281 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 76–133UCSCLeucine rich repeat
LRR_8aa 450–507UCSCLeucine rich repeat
LRRCTaa 558–583UCSCLeucine rich repeat C-terminal domain
TIRaa 641–796UCSCTIR domain

Gene Aliases

HGNC Name

toll like receptor 6

HGNC Alias Symbol

CD286

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006068.5
p.L324S
c.971T>C
Surrounding Variants
1 paper
NM_006068.5
p.L324L
c.972G>A
11 papers
NM_006068.5
p.V327M
c.979G>A
1 paper
NM_006068.5
p.F328Y
c.983T>A
1 paper
NM_006068.5
p.S320T
c.958T>A
1 paper
NM_006068.5
p.E330E
c.990G>A
1 paper
NM_006068.5
p.E330delFs
c.989delT
1 paper
NM_006068.5
p.I333S
c.998T>G
1 paper
NM_006068.5
p.T313M
c.938C>T
1 paper
NM_006068.5
p.I312I
c.936C>T
1 paper
NM_006068.5
p.L336F
c.1008A>T
1 paper
NM_006068.5
p.T337T
c.1011C>T
1 paper
NM_006068.5
p.H311Y
c.931C>T
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