Varaico: Literature-Extracted Genetic Variants

Gene:GBP4
Variant:p.E551delins

GBP4

77 papers

RefSeq Summary

Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008].

Pfam Domains

GBPaa 33–296UCSCGuanylate-binding protein, N-terminal domain
GBP_Caa 298–594UCSCGuanylate-binding protein, C-terminal domain

Gene Aliases

HGNC Name

guanylate binding protein 4

HGNC Alias Symbol

Mpa2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052941.5
p.E551delins
c.1651_1652delinsAG
Surrounding Variants
12 papers
NM_052941.5
p.E551G
c.1652A>G
1 paper
NM_052941.5
p.E551fs
c.1651_1652fs
10 papers
NM_052941.5
p.E551K
c.1651G>A
1 paper
NM_052941.5
p.R553K
c.1658G>A
7 papers
NM_052941.5
p.L549M
c.1645T>A
8 papers
NM_052941.5
p.E546K
c.1636G>A
1 paper
NM_052941.5
p.M542_E546delins
c.1626_1636delinsAGCTCAACTCA
8 papers
NM_052941.5
p.M545I
c.1635G>T
8 papers
NM_052941.5
p.M545I
c.1635G>C
8 papers
NM_052941.5
p.M545I
c.1635G>A
7 papers
NM_052941.5
p.M545L
c.1633A>T
7 papers
NM_052941.5
p.M545L
c.1633A>C
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