Varaico: Literature-Extracted Genetic Variants

Gene:GBP7
Variant:p.Y541H

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
2 papers
NM_207398.3
p.Y541H
c.1621T>C
Surrounding Variants
1 paper
NM_207398.3
p.R538_N540del3
c.1612_1619del9
1 paper
NM_207398.3
p.R538_N540del0
c.1613_1618del6
1 paper
NM_207398.3
p.M542L
c.1624A>T
1 paper
NM_207398.3
p.M542L
c.1624A>C
1 paper
NM_207398.3
p.M542I
c.1626G>T
1 paper
NM_207398.3
p.M542I
c.1626G>C
1 paper
NM_207398.3
p.M542I
c.1626G>A
1 paper
NM_207398.3
p.L545L
c.1635G>C
1 paper
NM_207398.3
p.R536W
c.1606A>T
1 paper
NM_207398.3
p.K531delFs
c.1593delC
1 paper
NM_207398.3
p.K531fs
c.1591_1592fs
1 paper
NM_207398.3
p.Q529E
c.1585C>G
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