Varaico: Literature-Extracted Genetic Variants

Gene:GBP6
Variant:p.A408D

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.A408D
c.1223C>A
Surrounding Variants
4 papers
NM_198460.3
p.K390M
c.1169A>T
1 paper
NM_198460.3
p.V428F
c.1282G>T
1 paper
NM_198460.3
p.M384_E385Splc
c.1153-3C>A
1 paper
NM_198460.3
p.P450S
c.1348C>T
1 paper
NM_198460.3
p.M355R
c.1064T>G
9 papers
NM_198460.3
p.M355V
c.1063A>G
1 paper
NM_198460.3
p.Q350H
c.1050G>C
1 paper
NM_198460.3
p.Q350H
c.1050G>T
1 paper
NM_198460.3
p.T348M
c.1043C>T
1 paper
NM_198460.3
p.L344fs
c.1030_1031fs
8 papers
NM_198460.3
p.L344F
c.1030C>T
1 paper
NM_198460.3
p.L344delFs
c.1030delC
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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."