Varaico: Literature-Extracted Genetic Variants

Gene:GBP5
Variant:p.F378L

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.F378L
c.1134C>A
Surrounding Variants
2 papers
NM_052942.5
p.F378L
c.1134C>G
2 papers
NM_052942.5
p.F378L
c.1132T>C
1 paper
NM_052942.5
p.S358C
c.1072A>T
1 paper
NM_052942.5
p.P344L
c.1031C>T
1 paper
NM_052942.5
p.V314F
c.940G>T
1 paper
NM_052942.5
p.S304S
c.912T>C
2 papers
NM_052942.5
p.R290C
c.868C>T
1 paper
NM_052942.5
p.R396W
c.1186C>T
3 papers
NM_052942.5
p.C405fs
c.1213_1214fs
1 paper
NM_052942.5
p.C405delFs
c.1214delC
1 paper
NM_052942.5
p.K410N
c.1230G>T
1 paper
NM_052942.5
p.K410N
c.1230G>C
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