Varaico: Literature-Extracted Genetic Variants

Gene:GLG1
Variant:p.A94V

GLG1

71 papers

Pfam Domains

Cys_rich_FGFRaa 153–212UCSCCysteine rich repeat
Cys_rich_FGFRaa 153–212UCSCCysteine rich repeat
Cys_rich_FGFRaa 214–278UCSCCysteine rich repeat
Cys_rich_FGFRaa 289–346UCSCCysteine rich repeat
Cys_rich_FGFRaa 349–413UCSCCysteine rich repeat
Cys_rich_FGFRaa 417–473UCSCCysteine rich repeat

Gene Aliases

HGNC Name

golgi glycoprotein 1

HGNC Alias Symbols

MG-160; ESL-1; CFR-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145667.2
p.A94V
c.281C>T
Surrounding Variants
1 paper
NM_001145667.2
p.R101W
c.301C>T
1 paper
NM_001145667.2
p.G102E
c.305G>A
1 paper
NM_001145667.2
p.P85T
c.253C>A
1 paper
NM_001145667.2
p.A104fs
c.310_311fs
1 paper
NM_001145667.2
p.G108fs
c.322_323fs
1 paper
NM_001145667.2
p.G109D
c.326G>A
1 paper
NM_001145667.2
p.G107_K111delins
c.321_331delinsAT
1 paper
NM_001145667.2
p.R124R
c.372C>T
1 paper
NM_001145667.2
p.Q61R
c.182A>G
1 paper
NM_001145667.2
p.T130S
c.388A>T
1 paper
NM_001145667.2
p.T130S
c.389C>G
1 paper
NM_001145667.2
p.T123_W131del0
c.369_392del24
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