Varaico: Literature-Extracted Genetic Variants

Gene:GBP5
Variant:p.M276V

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.M276V
c.826A>G
Surrounding Variants
1 paper
NM_052942.5
p.S269C
c.806C>G
1 paper
NM_052942.5
p.G283D
c.848G>A
1 paper
NM_052942.5
p.F267C
c.800T>G
1 paper
NM_052942.5
p.D253N
c.757G>A
2 papers
NM_052942.5
p.K244fs
c.730_731fs
1 paper
NM_052942.5
p.F236L
c.708T>G
1 paper
NM_052942.5
p.F236L
c.708T>A
1 paper
NM_052942.5
p.F236L
c.706T>C
1 paper
NM_052942.5
p.I235V
c.703A>G
1 paper
NM_052942.5
p.R221H
c.662G>A
1 paper
NM_052942.5
p.G209C
c.625G>T
1 paper
NM_052942.5
p.D175E
c.525C>G
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