Varaico: Literature-Extracted Genetic Variants

Gene:TLR7
Variant:p.K694R

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
2 papers
NM_016562.4
p.K694R
c.2081A>G
Surrounding Variants
1 paper
NM_016562.4
p.L698V
c.2092C>G
2 papers
NM_016562.4
p.F690I
c.2068T>A
5 papers
NM_016562.4
p.K684*
c.2050A>T
2 papers
NM_016562.4
p.Q710fs
c.2128_2129fs
12 papers
NM_016562.4
p.Q710fs
c.2128_2129fs
8 papers
NM_016562.4
p.Q710_L711delFs
c.2129_2132del4
3 papers
NM_016562.4
p.P715S
c.2143C>T
1 paper
NM_016562.4
p.D671_G672insFs
c.2013_2014insC
1 paper
NM_016562.4
p.F670_D671delFs
c.2010_2011delTG
1 paper
NM_016562.4
p.F670fs
c.2008_2009fs
3 papers
NM_016562.4
p.F670fs
c.2008_2009fs
1 paper
NM_016562.4
p.S663R
c.1989T>A
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