Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP1
Variant:p.R556Q

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.R556Q
c.1667G>A
Surrounding Variants
1 paper
NM_004286.5
p.R556L
c.1667G>T
1 paper
NM_004286.5
p.Q555*
c.1663C>T
1 paper
NM_004286.5
p.R543fs
c.1627_1628fs
1 paper
NM_004286.5
p.F542delFs
c.1626delC
3 papers
NM_004286.5
p.Q520K
c.1558C>A
1 paper
NM_004286.5
p.Y509*
c.1527C>A
1 paper
NM_004286.5
p.Y509*
c.1527C>G
1 paper
NM_004286.5
p.S489F
c.1466C>T
1 paper
NM_004286.5
p.R470C
c.1408C>T
1 paper
NM_004286.5
p.T577P
c.1729A>C
1 paper
NM_004286.5
p.Q592delFs
c.1774_1775delCA
1 paper
NM_004286.5
p.T594M
c.1781C>T
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