Varaico: Literature-Extracted Genetic Variants

Gene:TOLLIP
Variant:p.R31W

TOLLIP

72 papers

RefSeq Summary

This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in...

Pfam Domains

C2aa 53–154UCSCC2 domain
CUEaa 230–271UCSCCUE domain

Gene Aliases

HGNC Name

toll interacting protein

HGNC Alias Symbol

IL-1RAcPIP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019009.4
p.R31W
c.91C>T
Surrounding Variants
1 paper
NM_019009.4
p.R31R
c.91C>A
1 paper
NM_019009.4
p.Q30K
c.88C>A
1 paper
NM_019009.4
p.Q32H
c.96G>C
1 paper
NM_019009.4
p.A37insFs
c.110_111insC
1 paper
NM_019009.4
p.V12L
c.34G>C
2 papers
NM_019009.4
p.G53G
c.159C>T
1 paper
NM_019009.4
p.T58T
c.174G>C
1 paper
NM_019009.4
p.P11_V12Splc
c.34-1288C>T
1 paper
NM_019009.4
p.K63R
c.188A>G
1 paper
NM_019009.4
p.M73T
c.218T>C
1 paper
NM_001318512.2
p.R28Q
c.83G>A
1 paper
NM_019009.4
p.R80P
c.239G>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."