Varaico: Literature-Extracted Genetic Variants

Gene:TBKBP1
Variant:p.P432P

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
3 papers
NM_001394755.1
p.P432P
c.1296C>T
Surrounding Variants
1 paper
NM_001394755.1
p.R398C
c.1192C>T
1 paper
NM_001394755.1
p.C360G
c.1078T>G
1 paper
NM_001394755.1
p.P359Q
c.1076C>A
1 paper
NM_001394755.1
p.A508T
c.1522G>A
3 papers
NM_001394755.1
p.P343insFs
c.1028dupC
1 paper
NM_001394755.1
p.S342fs
c.1024_1025fs
1 paper
NM_001394755.1
p.V537G
c.1610T>G
2 papers
NM_001394755.1
p.H562P
c.1685A>C
1 paper
NM_001394755.1
p.Q567K
c.1699C>A
1 paper
NM_001394755.1
p.I572V
c.1714A>G
1 paper
NM_001394755.1
p.N573_L574Splc
c.1719+1G>A
1 paper
NM_001394755.1
p.E325*
c.973G>T
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