Varaico: Literature-Extracted Genetic Variants

Gene:GBP2
Variant:p.I104V

GBP2

84 papers

RefSeq Summary

This gene belongs to the guanine-binding protein (GBP) family, which includes interferon-induced proteins that can bind to guanine nucleotides (GMP, GDP and GTP). The encoded protein is a GTPase which...

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 2

HGNC Previous Name

guanylate binding protein 2, interferon-inducible

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004120.5
p.I104V
c.310A>G
Surrounding Variants
1 paper
NM_004120.5
p.D103A
c.308A>C
1 paper
NM_004120.5
p.E105G
c.314A>G
2 papers
NM_004120.5
p.E99D
c.297G>T
2 papers
NM_004120.5
p.E99D
c.297G>C
2 papers
NM_004120.5
p.E99A
c.296A>C
2 papers
NM_004120.5
p.E99Q
c.295G>C
1 paper
NM_004120.5
p.L95delFs
c.284delA
1 paper
NM_004120.5
p.V94A
c.281T>C
1 paper
NM_004120.5
p.H91N
c.271C>A
1 paper
NM_004120.5
p.V83_K88del6
c.247_263del18
1 paper
NM_004120.5
p.M80I
c.240G>T
1 paper
NM_004120.5
p.M80I
c.240G>C
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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."