Varaico: Literature-Extracted Genetic Variants

Gene:TRAF3IP1
Variant:p.R269C

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
1 paper
NM_015650.4
p.R269C
c.805C>T
Surrounding Variants
2 papers
NM_015650.4
p.R269H
c.806G>A
1 paper
NM_015650.4
p.R271Q
c.812G>A
1 paper
NM_015650.4
p.L262fs
c.784_785fs
1 paper
NM_015650.4
p.L262delFs
c.785_786delTG
2 papers
NM_015650.4
p.E260K
c.778G>A
1 paper
NM_015650.4
p.R280W
c.838C>T
1 paper
NM_015650.4
p.E254fs
c.760_761fs
1 paper
NM_015650.4
p.R293fs
c.877_878fs
4 papers
NM_015650.4
p.K295N
c.885G>C
4 papers
NM_015650.4
p.K295N
c.885G>T
1 paper
NM_015650.4
p.N236T
c.707A>C
1 paper
NM_015650.4
p.Q231L
c.692A>T
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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."