Varaico: Literature-Extracted Genetic Variants

Gene:OVGP1
Variant:p.R117H

OVGP1

115 papers

RefSeq Summary

This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to memb...

Pfam Domains

Glyco_hydro_18aa 23–360UCSCGlycosyl hydrolases family 18

Gene Aliases

HGNC Name

oviductal glycoprotein 1

HGNC Previous Symbol

MUC9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002557.4
p.R117H
c.350G>A
Surrounding Variants
1 paper
NM_002557.4
p.E118G
c.353A>G
1 paper
NM_002557.4
p.I125T
c.374T>C
1 paper
NM_002557.4
p.F133V
c.397T>G
1 paper
NM_002557.4
p.G135A
c.404G>C
1 paper
NM_002557.4
p.R153W
c.457C>T
1 paper
NM_002557.4
p.E161_E162Splc
c.484-6T>A
1 paper
NM_002557.4
p.A166S
c.496G>T
1 paper
NM_002557.4
p.A166delFs
c.498delG
3 papers
NM_002557.4
p.A171_M175del0
c.511_525del15
1 paper
NM_002557.4
p.L172_L179delFs
c.514_536del23
9 papers
NM_002557.4
p.R178_L181del0
c.533_541del9
1 paper
NM_002557.4
p.L172_L179del0
c.514_537del24
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