Varaico: Literature-Extracted Genetic Variants

Gene:GBP6
Variant:p.Q529*

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.Q529*
c.1585C>T
Surrounding Variants
8 papers
NM_198460.3
p.D520V
c.1559A>T
1 paper
NM_198460.3
p.I546_M547del1
c.1638_1640delTAT
1 paper
NM_198460.3
p.V490Splc
c.1469-78G>A
1 paper
NM_198460.3
p.E471K
c.1411G>A
1 paper
NM_198460.3
p.K455_A456Splc
c.1366-4A>G
1 paper
NM_198460.3
p.E562K
c.1684G>A
1 paper
NM_198460.3
p.A573T
c.1717G>A
1 paper
NM_198460.3
p.S576G
c.1726A>G
1 paper
NM_198460.3
p.R580C
c.1738C>T
1 paper
NM_198460.3
p.R580H
c.1739G>A
1 paper
NM_198460.3
p.A606E
c.1817C>A
1 paper
NM_198460.3
p.G616R
c.1846G>C
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