Varaico: Literature-Extracted Genetic Variants

Gene:OS9
Variant:p.D536N

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.D536N
c.1606G>A
Surrounding Variants
1 paper
NM_006812.4
p.R542W
c.1624C>T
1 paper
NM_006812.4
p.Q555K
c.1663C>A
1 paper
NM_006812.4
p.E573K
c.1717G>A
1 paper
NM_006812.4
p.L575M
c.1723C>A
1 paper
NM_006812.4
p.R597C
c.1789C>T
1 paper
NM_006812.4
p.T615P
c.1843A>C
1 paper
NM_006812.4
p.I621L
c.1861A>C
2 papers
NM_006812.4
p.I621T
c.1862T>C
1 paper
NM_006812.4
p.R637H
c.1910G>A
1 paper
NM_006812.4
p.E644V
c.1931A>T
1 paper
NM_006812.4
p.S653F
c.1958C>T
1 paper
NM_006812.4
p.D663N
c.1987G>A
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