Varaico: Literature-Extracted Genetic Variants

Gene:GMEB1
Variant:p.D331Splc

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.D331Splc
c.991+98T>A
Surrounding Variants
1 paper
NM_001319674.2
p.R371fs
c.1111_1112fs
1 paper
NM_001319674.2
p.A415T
c.1243G>A
1 paper
NM_001319674.2
p.H456H
c.1368C>T
1 paper
NM_001319674.2
p.I512T
c.1535T>C
1 paper
NM_001319674.2
p.A529V
c.1586C>T
1 paper
NM_001319674.2
p.I242T
c.725T>C
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