Varaico: Literature-Extracted Genetic Variants

Gene:GBP3

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
1–12 of 50 variants
9 papers
NM_018284.3
p.V469M
c.1405G>A
8 papers
NM_018284.3
p.C491R
c.1471T>C
5 papers
NM_018284.3
p.R221Q
c.662G>A
5 papers
NM_018284.3
p.T585delFs
c.1753delT
4 papers
NM_018284.3
p.R225W
c.673C>T
4 papers
NM_018284.3
p.R290C
c.868C>T
3 papers
NM_018284.3
p.L21M
c.61C>A
3 papers
NM_018284.3
p.L581P
c.1742T>C
2 papers
NM_018284.3
p.E442K
c.1324G>A
2 papers
NM_018284.3
p.T585fs
c.1753_1754fs
2 papers
NM_018284.3
p.T585fs
c.1753_1754fs
1 paper
NM_018284.3
p.C12Y
c.35G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."