Varaico: Literature-Extracted Genetic Variants

Gene:GBP5
Variant:p.H143Splc

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.H143Splc
c.428+75C>T
Surrounding Variants
1 paper
NM_052942.5
p.L141Q
c.422T>A
2 papers
NM_052942.5
p.A119V
c.356C>T
1 paper
NM_052942.5
p.A119T
c.355G>A
1 paper
NM_052942.5
p.Q114*
c.340C>T
1 paper
NM_052942.5
p.L151L
c.453G>T
1 paper
NM_052942.5
p.K106_A107Splc
c.319-50C>T
1 paper
NM_052942.5
p.S169insFs
c.505_506ins4
1 paper
NM_052942.5
p.S169fs
c.505_506fs
1 paper
NM_052942.5
p.D168_S169insFs
c.502_505dup4
1 paper
NM_052942.5
p.D175E
c.525C>G
1 paper
NM_052942.5
p.D175E
c.525C>A
1 paper
NM_052942.5
p.G209C
c.625G>T
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