Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP1
Variant:p.G154insFs

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.G154insFs
c.460_461insA
Surrounding Variants
1 paper
NM_004286.5
p.D155Y
c.463G>T
1 paper
NM_004286.5
p.D155A
c.464A>C
1 paper
NM_004286.5
p.R162K
c.485G>A
1 paper
NM_004286.5
p.R145R
c.435T>A
1 paper
NM_004286.5
p.R143_R145del3
c.427_434del9
1 paper
NM_004286.5
p.D130N
c.388G>A
1 paper
NM_004286.5
p.I127delFs
c.381delA
1 paper
NM_004286.5
p.Q126_I127delFs
c.378_379delGA
1 paper
NM_004286.5
p.E125G
c.374A>G
1 paper
NM_004286.5
p.A124V
c.371C>T
2 papers
NM_004286.5
p.S116A
c.346T>G
1 paper
NM_004286.5
p.E114K
c.340G>A
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