Varaico: Literature-Extracted Genetic Variants

Gene:GMEB1
Variant:p.G69R

GMEB1

30 papers

RefSeq Summary

This gene encodes a member of KDWK gene family which associates with GMEB2 protein. The GMEB1-GMEB2 complex is essential for parvovirus DNA replication. Studies in rat for a similar gene suggest that ...

Pfam Domains

SANDaa 89–165UCSCSAND domain
Spe-44aa 250–361UCSCTranscription regulator spe-44-like domain

Gene Aliases

HGNC Name

glucocorticoid modulatory element binding protein 1

HGNC Alias Symbols

P96PIF; PIF96

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001319674.2
p.G69R
c.205G>A
Surrounding Variants
1 paper
NM_001319674.2
p.G69R
c.205G>C
1 paper
NM_001319674.2
p.H64Q
c.192C>A
1 paper
NM_001319674.2
p.H64Q
c.192C>G
1 paper
NM_001319674.2
p.D71insFs
c.212dupA
1 paper
NM_001319674.2
p.E79K
c.235G>A
1 paper
NM_001319674.2
p.Y85C
c.254A>G
1 paper
NM_001319674.2
p.V111delFs
c.331delG
1 paper
NM_001319674.2
p.K112_F113Splc
c.337-41A>T
1 paper
NM_001319674.2
p.L126V
c.376C>G
1 paper
NM_001319674.2
p.I139F
c.415A>T
1 paper
NM_001319674.2
p.G43Splc
c.128+47C>T
1 paper
NM_001319674.2
p.G43Splc
c.128+1G>T
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