Varaico: Literature-Extracted Genetic Variants

Gene:TLR1
Variant:p.N455D

TLR1

494 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 69–126UCSCLeucine rich repeat
LRR_8aa 445–502UCSCLeucine rich repeat
LRRCTaa 553–578UCSCLeucine rich repeat C-terminal domain
TIRaa 636–786UCSCTIR domain

Gene Aliases

HGNC Name

toll like receptor 1

HGNC Alias Symbols

rsc786; KIAA0012; CD281

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003263.4
p.N455D
c.1363A>G
Surrounding Variants
2 papers
NM_003263.4
p.S454R
c.1362C>G
2 papers
NM_003263.4
p.S454R
c.1362C>A
1 paper
NM_003263.4
p.N455N
c.1365T>C
1 paper
NM_003263.4
p.K456E
c.1366A>G
2 papers
NM_003263.4
p.S454R
c.1360A>C
1 paper
NM_003263.4
p.S459G
c.1375A>G
8 papers
NM_003263.4
p.L450L
c.1350T>C
2 papers
NM_003263.4
p.S459N
c.1376G>A
1 paper
NM_003263.4
p.L450P
c.1349T>C
1 paper
NM_003263.4
p.S459S
c.1377C>T
4 papers
NM_003263.4
p.I460V
c.1378A>G
1 paper
NM_003263.4
p.K462K
c.1386A>G
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