Varaico: Literature-Extracted Genetic Variants

Gene:TUSC3
Variant:p.E280K

TUSC3

121 papers

RefSeq Summary

This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to t...

Pfam Domains

OST3_OST6aa 54–342UCSCOST3 / OST6 family, transporter family

Gene Aliases

HGNC Name

tumor suppressor candidate 3

HGNC Previous Symbol

MRT22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006765.4
p.E280K
c.838G>A
Surrounding Variants
1 paper
NM_006765.4
p.H282P
c.845A>C
1 paper
NM_006765.4
p.I283V
c.847A>G
1 paper
NM_006765.4
p.I283_I284Fs
c.847_852delinsAFs
2 papers
NM_006765.4
p.F277delFs
c.831delT
1 paper
NM_006765.4
p.I284_L285delFs
c.852_855del4
1 paper
NM_006765.4
p.S272T
c.815G>C
1 paper
NM_006765.4
p.G271delFs
c.811delG
1 paper
NM_006765.4
p.H270Y
c.808C>T
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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."