Varaico: Literature-Extracted Genetic Variants

Gene:OS9
Variant:p.E399*

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.E399*
c.1195G>T
Surrounding Variants
1 paper
NM_006812.4
p.E386G
c.1157A>G
1 paper
NM_006812.4
p.L444P
c.1331T>C
2 papers
NM_006812.4
p.P446L
c.1337C>T
1 paper
NM_006812.4
p.S447L
c.1340C>T
1 paper
NM_006812.4
p.S454L
c.1361C>T
1 paper
NM_006812.4
p.I467T
c.1400T>C
1 paper
NM_006812.4
p.R486W
c.1456C>T
1 paper
NM_006812.4
p.N348H
c.1042A>C
1 paper
NM_006812.4
p.P347L
c.1040C>T
1 paper
NM_006812.4
p.D334G
c.1001A>G
1 paper
NM_006812.4
p.A322D
c.965C>A
1 paper
NM_006812.4
p.D536N
c.1606G>A
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