Varaico: Literature-Extracted Genetic Variants

Gene:GBP7
Variant:p.R291Splc

GBP7

78 papers

RefSeq Summary

Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008].

Pfam Domains

GBPaa 18–281UCSCGuanylate-binding protein, N-terminal domain
GBP_Caa 283–579UCSCGuanylate-binding protein, C-terminal domain

Gene Aliases

HGNC Name

guanylate binding protein 7

HGNC Alias Symbols

FLJ38822; GBP4L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_207398.3
p.R291Splc
c.872-4T>C
Surrounding Variants
1 paper
NM_207398.3
p.A314T
c.940G>A
1 paper
NM_207398.3
p.A325_Q336del12
c.973_1007del36
1 paper
NM_207398.3
p.V366D
c.1097T>A
1 paper
NM_207398.3
p.M368I
c.1104G>T
1 paper
NM_207398.3
p.M368I
c.1104G>C
1 paper
NM_207398.3
p.M368I
c.1104G>A
1 paper
NM_207398.3
p.S376N
c.1127G>A
1 paper
NM_207398.3
p.V384_D385Splc
c.1152+1G>C
2 papers
NM_207398.3
p.F268L
c.804C>G
2 papers
NM_207398.3
p.F268L
c.804C>A
2 papers
NM_207398.3
p.F268L
c.802T>C
1 paper
NM_207398.3
p.D258N
c.772G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."