Varaico: Literature-Extracted Genetic Variants

Gene:TMED9
Variant:p.Q177H

TMED9

268 papers

RefSeq Summary

This gene is a member of a family of genes encoding transport proteins located in the endoplasmic reticulum and the Golgi. A similar gene in mouse is the target of microRNA miR-296, which is part of a...

Pfam Domains

EMP24_GP25Laa 37–230UCSCemp24/gp25L/p24 family/GOLD

Gene Aliases

HGNC Name

transmembrane p24 trafficking protein 9

HGNC Alias Symbols

HSGP25L2G; p24alpha2; p24a2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017510.6
p.Q177H
c.531G>C
Surrounding Variants
1 paper
NM_017510.6
p.Q177Q
c.531G>A
1 paper
NM_017510.6
p.Q177H
c.531G>T
1 paper
NM_017510.6
p.Q177_Q185del0
c.529_555del27
1 paper
NM_017510.6
p.E173_Q174insA
c.517_521ins3
1 paper
NM_017510.6
p.L171L
c.511C>T
9 papers
NM_017510.6
p.Q170*
c.508C>T
1 paper
NM_017510.6
p.R167R
c.501A>C
1 paper
NM_017510.6
p.A156insFs
c.467_468insT
1 paper
NM_017510.6
p.E147A
c.440A>C
1 paper
NM_017510.6
p.H140_L141ins4
c.418_422ins12
1 paper
NM_017510.6
p.H140Y
c.418C>T
1 paper
NM_017510.6
p.L137_R138Splc
c.411+126T>C
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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."