Varaico: Literature-Extracted Genetic Variants

Gene:TLR5
Variant:p.S247T

TLR5

350 papers

RefSeq Summary

This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct ...

Pfam Domains

LRR_8aa 81–131UCSCLeucine rich repeat
LRR_8aa 134–182UCSCLeucine rich repeat
LRR_8aa 288–348UCSCLeucine rich repeat
LRR_8aa 320–372UCSCLeucine rich repeat
LRR_8aa 360–415UCSCLeucine rich repeat
LRR_8aa 491–538UCSCLeucine rich repeat

Gene Aliases

HGNC Name

toll like receptor 5

HGNC Previous Symbol

SLEB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003268.6
p.S247T
c.740G>C
Surrounding Variants
5 papers
NM_003268.6
p.N248S
c.743A>G
1 paper
NM_003268.6
p.I250I
c.750C>A
1 paper
NM_003268.6
p.T243A
c.727A>G
3 papers
NM_003268.6
p.L258*
c.773T>A
1 paper
NM_003268.6
p.L260R
c.779T>G
1 paper
NM_003268.6
p.H263R
c.788A>G
1 paper
NM_003268.6
p.G266C
c.796G>T
3 papers
NM_003268.6
p.G268R
c.802G>C
3 papers
NM_003268.6
p.G268R
c.802G>A
1 paper
NM_003268.6
p.N225D
c.673A>G
2 papers
NM_003268.6
p.I274delFs
c.821delA
1 paper
NM_003268.6
p.F271_D276del0
c.811_828del18
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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."