Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP1

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
1–12 of 102 variants
3 papers
NM_004286.5
p.T208A
c.622A>G
3 papers
NM_004286.5
p.E291K
c.871G>A
3 papers
NM_004286.5
p.Q520K
c.1558C>A
2 papers
NM_004286.5
p.S116A
c.346T>G
2 papers
NM_004286.5
p.E202K
c.604G>A
1 paper
NM_004286.5
p.M1insFs
c.2dupT
1 paper
NM_004286.5
p.M1delFs
c.2delT
1 paper
NM_004286.5
p.M1T
c.2T>C
1 paper
NM_004286.5
p.M1insFs
c.3dupG
1 paper
NM_004286.5
p.T3P
c.7A>C
1 paper
NM_004286.5
p.T3A
c.7A>G
1 paper
NM_004286.5
p.A20A
c.60C>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."