Varaico: Literature-Extracted Genetic Variants

Gene:TBKBP1
Variant:p.S31_L32delFs

TBKBP1

44 papers

RefSeq Summary

TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[...

Pfam Domains

TBDaa 288–342UCSCTBD domain

Gene Aliases

HGNC Name

TBK1 binding protein 1

HGNC Alias Symbols

ProSAPiP2; KIAA0775

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001394755.1
p.S31_L32delFs
c.92_96del5
Surrounding Variants
1 paper
NM_001394755.1
p.S31_L32delFs
c.92_95del4
1 paper
NM_001394755.1
p.S31fs
c.91_92fs
1 paper
NM_001394755.1
p.S31_G34delFs
c.92_102del11
1 paper
NM_001394755.1
p.S31_D35del0
c.92_103del12
1 paper
NM_001394755.1
p.S31_L32insFs
c.93_94insG
1 paper
NM_001394755.1
p.P30_S38del0
c.89_112del24
1 paper
NM_001394755.1
p.S31_D35del0
c.93_104del12
1 paper
NM_001394755.1
p.L32fs
c.94_95fs
1 paper
NM_001394755.1
p.G28_S31delFs
c.82_92del11
1 paper
NM_001394755.1
p.P27fs
c.79_80fs
1 paper
NM_001394755.1
p.S26_S38delFs
c.78_112del35
1 paper
NM_001394755.1
p.A16S
c.46G>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."