Varaico: Literature-Extracted Genetic Variants

Gene:TM9SF2
Variant:p.T401M

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.T401M
c.1202C>T
Surrounding Variants
1 paper
NM_004800.3
p.A398E
c.1193C>A
2 papers
NM_004800.3
p.Y416C
c.1247A>G
1 paper
NM_004800.3
p.Y416F
c.1247A>T
1 paper
NM_004800.3
p.G443E
c.1328G>A
1 paper
NM_004800.3
p.S371F
c.1112C>T
1 paper
NM_004800.3
p.R360_S366delFs
c.1079_1097del19
1 paper
NM_004800.3
p.D354Y
c.1060G>T
1 paper
NM_004800.3
p.L350R
c.1049T>G
1 paper
NM_004800.3
p.L350F
c.1048C>T
1 paper
NM_004800.3
p.W348*
c.1044G>A
1 paper
NM_004800.3
p.E344*
c.1030G>T
1 paper
NM_004800.3
p.D341N
c.1021G>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."