Varaico: Literature-Extracted Genetic Variants

Gene:GBP5

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
1–12 of 74 variants
3 papers
NM_052942.5
p.Y53F
c.158A>T
3 papers
NM_052942.5
p.C405fs
c.1213_1214fs
3 papers
NM_052942.5
p.S465F
c.1394C>T
2 papers
NM_052942.5
p.T70A
c.208A>G
2 papers
NM_052942.5
p.A119V
c.356C>T
2 papers
NM_052942.5
p.K244fs
c.730_731fs
2 papers
NM_052942.5
p.R290C
c.868C>T
2 papers
NM_052942.5
p.F378L
c.1132T>C
2 papers
NM_052942.5
p.F378L
c.1134C>G
2 papers
NM_052942.5
p.F378L
c.1134C>A
1 paper
NM_052942.5
p.M1T
c.2T>C
1 paper
NM_052942.5
p.E4Q
c.10G>C
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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."