Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP1
Variant:p.L417L

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.L417L
c.1249C>T
Surrounding Variants
1 paper
NM_004286.5
p.V412delFs
c.1235delT
1 paper
NM_004286.5
p.L429L
c.1285C>T
1 paper
NM_004286.5
p.R447R
c.1341C>A
1 paper
NM_004286.5
p.K448E
c.1342A>G
1 paper
NM_004286.5
p.A461G
c.1382C>G
1 paper
NM_004286.5
p.S404F
c.1211C>T
1 paper
NM_004286.5
p.M378_F379del2
c.1132_1136del6
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.R470C
c.1408C>T
1 paper
NM_004286.5
p.S489F
c.1466C>T
1 paper
NM_004286.5
p.Y509*
c.1527C>A
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