Varaico: Literature-Extracted Genetic Variants

Gene:OVGP1
Variant:p.Y514fs

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.Y514fs
c.1540_1541fs
Surrounding Variants
5 papers
NM_002557.4
p.Y514H
c.1540T>C
1 paper
NM_002557.4
p.V512fs
c.1534_1535fs
1 paper
NM_002557.4
p.S511fs
c.1531_1532fs
2 papers
NM_002557.4
p.T518S
c.1552A>T
3 papers
NM_002557.4
p.S511P
c.1531T>C
3 papers
NM_002557.4
p.T518S
c.1553C>G
1 paper
NM_002557.4
p.P519S
c.1555C>T
1 paper
NM_002557.4
p.L509P
c.1526T>C
1 paper
NM_002557.4
p.G520W
c.1558G>T
1 paper
NM_002557.4
p.G520fs
c.1558_1559fs
2 papers
NM_002557.4
p.G520G
c.1560G>A
1 paper
NM_002557.4
p.E521Q
c.1561G>C
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