Varaico: Literature-Extracted Genetic Variants

Gene:GBP3
Variant:p.E442K

GBP3

62 papers

RefSeq Summary

This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical ...

Pfam Domains

GBPaa 18–280UCSCGuanylate-binding protein, N-terminal domain
GBP_Caa 282–578UCSCGuanylate-binding protein, C-terminal domain

Gene Aliases

HGNC Name

guanylate binding protein 3

HGNC Alias Symbol

FLJ10961

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018284.3
p.E442K
c.1324G>A
Surrounding Variants
1 paper
NM_018284.3
p.E361A
c.1082A>C
1 paper
NM_018284.3
p.Q342K
c.1024C>A
1 paper
NM_018284.3
p.E321D
c.963G>T
1 paper
NM_018284.3
p.E321D
c.963G>C
1 paper
NM_018284.3
p.V295delFs
c.883delC
4 papers
NM_018284.3
p.R290C
c.868C>T
1 paper
NM_018284.3
p.E457D
c.1371G>T
1 paper
NM_018284.3
p.E457D
c.1371G>C
1 paper
NM_018284.3
p.K466N
c.1398G>T
1 paper
NM_018284.3
p.K466N
c.1398G>C
9 papers
NM_018284.3
p.V469M
c.1405G>A
8 papers
NM_018284.3
p.C491R
c.1471T>C
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