Varaico: Literature-Extracted Genetic Variants

Gene:OS9
Variant:p.C110F

OS9

76 papers

RefSeq Summary

This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promo...

Pfam Domains

PRKCSHaa 108–181UCSCGlucosidase II beta subunit-like protein

Gene Aliases

HGNC Name

OS9 endoplasmic reticulum lectin

HGNC Alias Symbols

OS-9; ERLEC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006812.4
p.C110F
c.329G>T
Surrounding Variants
1 paper
NM_006812.4
p.C73Y
c.218G>A
1 paper
NM_006812.4
p.S58W
c.173C>G
1 paper
NM_006812.4
p.I43I
c.129C>A
1 paper
NM_006812.4
p.T5R
c.14C>G
1 paper
NM_006812.4
p.E4K
c.10G>A
1 paper
NM_006812.4
p.M1T
c.2T>C
1 paper
NM_006812.4
p.K113_T114Splc
c.340-2A>G
1 paper
NM_006812.4
p.D116G
c.347A>G
2 papers
NM_006812.4
p.Q130E
c.388C>G
1 paper
NM_006812.4
p.Y144H
c.430T>C
1 paper
NM_006812.4
p.T158delFs
c.474delA
1 paper
NM_006812.4
p.G176R
c.526G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."