Varaico: Literature-Extracted Genetic Variants

Gene:TM9SF2
Variant:p.I196N

TM9SF2

83 papers

RefSeq Summary

This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic ...

Pfam Domains

EMP70aa 75–620UCSCEndomembrane protein 70

Gene Aliases

HGNC Name

transmembrane 9 superfamily member 2

HGNC Alias Symbols

P76; Lnc-PCIR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004800.3
p.I196N
c.587T>A
Surrounding Variants
1 paper
NM_004800.3
p.S197G
c.589A>G
1 paper
NM_004800.3
p.T162M
c.485C>T
1 paper
NM_004800.3
p.I155_D157del3
c.463_470del9
1 paper
NM_004800.3
p.D199Y
c.595G>T
1 paper
NM_004800.3
p.F206delFs
c.616delT
1 paper
NM_004800.3
p.I208F
c.622A>T
1 paper
NM_004800.3
p.D213Y
c.637G>T
2 papers
NM_004800.3
p.I214V
c.640A>G
1 paper
NM_004800.3
p.I214M
c.642C>G
1 paper
NM_004800.3
p.A233G
c.698C>G
1 paper
NM_004800.3
p.P237L
c.710C>T
1 paper
NM_004800.3
p.P248S
c.742C>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."