Varaico: Literature-Extracted Genetic Variants

Gene:GBP5
Variant:p.Q454_A455Splc

GBP5

81 papers

RefSeq Summary

This gene belongs to the TRAFAC class dynamin-like GTPase superfamily. The encoded protein acts as an activator of NLRP3 inflammasome assembly and has a role in innate immunity and inflammation. Alter...

Pfam Domains

GBPaa 18–280UCSCGuanylate-binding protein, N-terminal domain
GBP_Caa 282–574UCSCGuanylate-binding protein, C-terminal domain

Gene Aliases

HGNC Name

guanylate binding protein 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052942.5
p.Q454_A455Splc
c.1363-104C>T
Surrounding Variants
3 papers
NM_052942.5
p.S465F
c.1394C>T
1 paper
NM_052942.5
p.L480V
c.1438C>G
1 paper
NM_052942.5
p.K487_K488del1
c.1461_1463delTTC
1 paper
NM_052942.5
p.A505_A506ins4
c.1513_1517ins12
1 paper
NM_052942.5
p.N511K
c.1533C>G
1 paper
NM_052942.5
p.N511K
c.1533C>A
1 paper
NM_052942.5
p.R520I
c.1559G>T
1 paper
NM_052942.5
p.Q549_E550Splc
c.1647+4T>C
1 paper
NM_052942.5
p.K451R
c.1352A>G
1 paper
NM_052942.5
p.R450W
c.1348C>T
1 paper
NM_052942.5
p.R447Q
c.1340G>A
1 paper
NM_052942.5
p.K442E
c.1324A>G
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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."