Varaico: Literature-Extracted Genetic Variants

Gene:GBP5
Variant:p.T70A

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
2 papers
NM_052942.5
p.T70A
c.208A>G
Surrounding Variants
1 paper
NM_052942.5
p.W81*
c.242G>A
1 paper
NM_052942.5
p.W81*
c.243G>A
1 paper
NM_052942.5
p.W88*
c.263G>A
1 paper
NM_052942.5
p.W88*
c.264G>A
1 paper
NM_052942.5
p.D103Y
c.307G>T
1 paper
NM_052942.5
p.K106_A107Splc
c.318+20T>C
1 paper
NM_052942.5
p.G60V
c.179G>T
3 papers
NM_052942.5
p.Y53F
c.158A>T
1 paper
NM_052942.5
p.S52A
c.154T>G
1 paper
NM_052942.5
p.S52P
c.154T>C
1 paper
NM_052942.5
p.Q36R
c.107A>G
1 paper
NM_052942.5
p.Q36*
c.106C>T
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