Varaico: Literature-Extracted Genetic Variants

Gene:GBP6
Variant:p.F183L

GBP6

69 papers

RefSeq Summary

Guanylate-binding proteins, such as GBP6, 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 family member 6

HGNC Alias Symbol

DKFZp686G0786

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198460.3
p.F183L
c.547T>C
Surrounding Variants
1 paper
NM_198460.3
p.F183L
c.549C>A
1 paper
NM_198460.3
p.F183L
c.549C>G
1 paper
NM_198460.3
p.D182N
c.544G>A
3 papers
NM_198460.3
p.E201*
c.601G>T
1 paper
NM_198460.3
p.V163A
c.488T>C
1 paper
NM_198460.3
p.A203T
c.607G>A
1 paper
NM_198460.3
p.T146M
c.437C>T
1 paper
NM_198460.3
p.H143Splc
c.428+1G>A
1 paper
NM_198460.3
p.K110R
c.329A>G
1 paper
NM_198460.3
p.G209Splc
c.626-10T>A
2 papers
NM_198460.3
p.R225G
c.673A>G
1 paper
NM_198460.3
p.R231W
c.691C>T
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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."