Varaico: Literature-Extracted Genetic Variants

Gene:GBP5
Variant:p.K410N

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.K410N
c.1230G>T
Surrounding Variants
1 paper
NM_052942.5
p.K410N
c.1230G>C
1 paper
NM_052942.5
p.P415H
c.1244C>A
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.G423*
c.1267G>T
1 paper
NM_052942.5
p.R396W
c.1186C>T
1 paper
NM_052942.5
p.N432del1
c.1294_1295delATT
1 paper
NM_052942.5
p.E439fs
c.1315_1316fs
1 paper
NM_052942.5
p.E439delFs
c.1315_1316delTC
1 paper
NM_052942.5
p.K442E
c.1324A>G
1 paper
NM_052942.5
p.R447Q
c.1340G>A
1 paper
NM_052942.5
p.R450W
c.1348C>T
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