Varaico: Literature-Extracted Genetic Variants

Gene:TLR7
Variant:p.N523H

TLR7

384 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 496–554UCSCLeucine rich repeat
LRR_1aa 700–721UCSCLeucine Rich Repeat
TIRaa 890–1044UCSCTIR domain

Gene Aliases

HGNC Name

toll like receptor 7

HGNC Previous Name

toll-like receptor 7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016562.4
p.N523H
c.1567A>C
Surrounding Variants
1 paper
NM_016562.4
p.S525delins
c.1574_1575delinsCT
1 paper
NM_016562.4
p.L519L
c.1557C>G
1 paper
NM_016562.4
p.F518S
c.1553T>C
5 papers
NM_016562.4
p.L528I
c.1582C>A
1 paper
NM_016562.4
p.I529V
c.1585A>G
1 paper
NM_016562.4
p.F513C
c.1538T>G
1 paper
NM_016562.4
p.K509_S510insFs
c.1527_1528ins26
1 paper
NM_016562.4
p.K509fs
c.1525_1526fs
10 papers
NM_016562.4
p.F507L
c.1521T>A
10 papers
NM_016562.4
p.F507L
c.1521T>G
5 papers
NM_016562.4
p.F507S
c.1520T>C
10 papers
NM_016562.4
p.F507L
c.1519T>C
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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."