Varaico: Literature-Extracted Genetic Variants

Gene:TM9SF2

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
1–12 of 96 variants
2 papers
NM_004800.3
p.K52insFs
c.155dupA
2 papers
NM_004800.3
p.I214V
c.640A>G
2 papers
NM_004800.3
p.A284V
c.851C>T
2 papers
NM_004800.3
p.Y416C
c.1247A>G
1 paper
NM_004800.3
p.M1I
c.3G>A
1 paper
NM_004800.3
p.P6Q
c.17C>A
1 paper
NM_004800.3
p.P11insFs
c.32dupC
1 paper
NM_004800.3
p.R15W
c.43C>T
1 paper
NM_004800.3
p.L23Q
c.68T>A
1 paper
NM_004800.3
p.P30R
c.89C>G
1 paper
NM_004800.3
p.F46L
c.138C>A
1 paper
NM_004800.3
p.E50K
c.148G>A
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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."