Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP1
Variant:p.E291K

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
3 papers
NM_004286.5
p.E291K
c.871G>A
Surrounding Variants
1 paper
NM_004286.5
p.S281N
c.842G>A
1 paper
NM_004286.5
p.Q319*
c.955C>T
1 paper
NM_004286.5
p.L322M
c.964C>A
1 paper
NM_004286.5
p.L328P
c.983T>C
1 paper
NM_004286.5
p.P332S
c.994C>T
1 paper
NM_004286.5
p.R335_K336del2
c.1003_1007del6
1 paper
NM_004286.5
p.P338fs
c.1012_1013fs
1 paper
NM_004286.5
p.E357insFs
c.1069_1070insAC
1 paper
NM_004286.5
p.I362L
c.1084A>C
1 paper
NM_004286.5
p.I362L
c.1084A>T
1 paper
NM_004286.5
p.M378_F379del2
c.1132_1136del6
1 paper
NM_004286.5
p.S404F
c.1211C>T
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