Varaico: Literature-Extracted Genetic Variants

Gene:TMED9
Variant:p.Q72H

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.Q72H
c.216G>C
Surrounding Variants
1 paper
NM_017510.6
p.Q72Q
c.216G>A
1 paper
NM_017510.6
p.R73delFs
c.218delG
1 paper
NM_017510.6
p.K71E
c.211A>G
1 paper
NM_017510.6
p.D70fs
c.208_209fs
1 paper
NM_017510.6
p.D70delFs
c.208_209delGA
2 papers
NM_017510.6
p.Y69N
c.205T>A
2 papers
NM_017510.6
p.Q67L
c.200A>T
1 paper
NM_017510.6
p.Q67insFs
c.199dupC
1 paper
NM_017510.6
p.A79V
c.236C>T
1 paper
NM_017510.6
p.T66_Q67insFs
c.196_199dup4
1 paper
NM_017510.6
p.T80A
c.238A>G
2 papers
NM_017510.6
p.T80I
c.239C>T
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