Varaico: Literature-Extracted Genetic Variants

Gene:GBP5
Variant:p.S52P

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.S52P
c.154T>C
Surrounding Variants
1 paper
NM_052942.5
p.S52A
c.154T>G
3 papers
NM_052942.5
p.Y53F
c.158A>T
1 paper
NM_052942.5
p.G60V
c.179G>T
1 paper
NM_052942.5
p.Q36R
c.107A>G
1 paper
NM_052942.5
p.Q36*
c.106C>T
1 paper
NM_052942.5
p.T35M
c.104C>T
1 paper
NM_052942.5
p.D9E
c.27C>G
1 paper
NM_052942.5
p.D9E
c.27C>A
1 paper
NM_052942.5
p.D9V
c.26A>T
1 paper
NM_052942.5
p.E4Q
c.10G>C
1 paper
NM_052942.5
p.M1T
c.2T>C
2 papers
NM_052942.5
p.T70A
c.208A>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."