Varaico: Literature-Extracted Genetic Variants

Gene:GLMP
Variant:p.F173S

GLMP

38 papers

Pfam Domains

NCU-G1aa 55–399UCSCLysosomal transcription factor, NCU-G1

Gene Aliases

HGNC Name

glycosylated lysosomal membrane protein

HGNC Previous Symbol

C1orf85

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144580.3
p.F173S
c.518T>C
Surrounding Variants
1 paper
NM_144580.3
p.T172I
c.515C>T
1 paper
NM_144580.3
p.R193_V194Splc
c.579+18G>A
1 paper
NM_144580.3
p.P142S
c.424C>T
5 papers
NM_144580.3
p.P203S
c.607C>T
7 papers
NM_144580.3
p.I223V
c.667A>G
1 paper
NM_144580.3
p.R228W
c.682C>T
1 paper
NM_144580.3
p.R231C
c.691C>T
1 paper
NM_144580.3
p.G242S
c.724G>A
1 paper
NM_144580.3
p.L122F
c.364C>T
1 paper
NM_144580.3
p.C247S
c.739T>A
1 paper
NM_144580.3
p.C247S
c.740G>C
4 papers
NM_144580.3
p.Q117*
c.349C>T
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