Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP1
Variant:p.H201_E202insFs

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.H201_E202insFs
c.603_604insG
Surrounding Variants
2 papers
NM_004286.5
p.E202K
c.604G>A
1 paper
NM_004286.5
p.I203F
c.607A>T
1 paper
NM_004286.5
p.G206delFs
c.616delG
1 paper
NM_004286.5
p.R207C
c.619C>T
1 paper
NM_004286.5
p.L196F
c.586C>T
3 papers
NM_004286.5
p.T208A
c.622A>G
1 paper
NM_004286.5
p.K195delFs
c.585delA
1 paper
NM_004286.5
p.S209N
c.626G>A
1 paper
NM_004286.5
p.A192V
c.575C>T
1 paper
NM_004286.5
p.N213K
c.639C>A
1 paper
NM_004286.5
p.N213K
c.639C>G
1 paper
NM_004286.5
p.E221K
c.661G>A
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