Varaico: Literature-Extracted Genetic Variants

Gene:TICAM1
Variant:p.L513M

TICAM1

238 papers

RefSeq Summary

This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the T...

Pfam Domains

TRIF-NTDaa 1–148UCSCTRIF N-terminal domain
RHIMaa 676–697UCSCRIP homotypic interaction motif

Gene Aliases

HGNC Name

TIR domain containing adaptor molecule 1

HGNC Alias Symbols

TRIF; TICAM-1; MGC35334; PRVTIRB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182919.4
p.L513M
c.1537C>A
Surrounding Variants
2 papers
NM_182919.4
p.A521T
c.1561G>A
1 paper
NM_182919.4
p.K523R
c.1568A>G
1 paper
NM_182919.4
p.A525T
c.1573G>A
1 paper
NM_182919.4
p.Q498R
c.1493A>G
1 paper
NM_182919.4
p.P496P
c.1488G>A
1 paper
NM_182919.4
p.K529R
c.1586A>G
1 paper
NM_182919.4
p.Q534K
c.1600C>A
1 paper
NM_182919.4
p.C485Y
c.1454G>A
1 paper
NM_182919.4
p.E543A
c.1628A>C
1 paper
NM_182919.4
p.Q480_G481delFs
c.1438_1442del5
2 papers
NM_182919.4
p.R479Q
c.1436G>A
1 paper
NM_182919.4
p.T478K
c.1433C>A
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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."