Varaico: Literature-Extracted Genetic Variants

Gene:TRAF3IP1
Variant:p.R139Q

TRAF3IP1

92 papers

RefSeq Summary

The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response....

Pfam Domains

MIP-T3aa 5–117UCSCMicrotubule-binding protein MIP-T3 CH-like domain
MIP-T3_Caa 532–685UCSCMicrotubule-binding protein MIP-T3 C-terminal region

Gene Aliases

HGNC Name

TRAF3 interacting protein 1

HGNC Alias Symbols

MIP-T3; DKFZP434F124; MIPT3; IFT54; FAP116; CFAP116

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_015650.4
p.R139Q
c.416G>A
Surrounding Variants
3 papers
NM_015650.4
p.R139W
c.415C>T
1 paper
NM_015650.4
p.D150N
c.448G>A
3 papers
NM_015650.4
p.V125A
c.374T>C
2 papers
NM_015650.4
p.V125M
c.373G>A
2 papers
NM_015650.4
p.R155*
c.463C>T
2 papers
NM_015650.4
p.R182Q
c.545G>A
1 paper
NM_015650.4
p.R219fs
c.655_656fs
3 papers
NM_015650.4
p.N228S
c.683A>G
1 paper
NM_015650.4
p.Q231L
c.692A>T
1 paper
NM_015650.4
p.N236T
c.707A>C
1 paper
NM_015650.4
p.E254fs
c.760_761fs
2 papers
NM_015650.4
p.E260K
c.778G>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."