Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP1
Variant:p.S667G

GTPBP1

77 papers

RefSeq Summary

This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where di...

Pfam Domains

GTP_EFTUaa 160–385UCSCElongation factor Tu GTP binding domain
GTP_EFTU_D2aa 409–480UCSCElongation factor Tu domain 2

Gene Aliases

HGNC Name

GTP binding protein 1

HGNC Alias Symbols

GP-1; HSPC018

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004286.5
p.S667G
c.1999A>G
Surrounding Variants
1 paper
NM_004286.5
p.T664I
c.1991C>T
1 paper
NM_004286.5
p.Q659K
c.1975C>A
1 paper
NM_004286.5
p.R653H
c.1958G>A
1 paper
NM_004286.5
p.G650R
c.1948G>A
1 paper
NM_004286.5
p.G650R
c.1948G>C
1 paper
NM_004286.5
p.R648Q
c.1943G>A
1 paper
NM_004286.5
p.Q639_P640Splc
c.1918-30T>C
1 paper
NM_004286.5
p.E621insFs
c.1862dupA
1 paper
NM_004286.5
p.A615delFs
c.1845delA
1 paper
NM_004286.5
p.A615fs
c.1843_1844fs
1 paper
NM_004286.5
p.D603_E604insG
c.1807_1811ins3
1 paper
NM_004286.5
p.R602Q
c.1805G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."