Varaico: Literature-Extracted Genetic Variants

Gene:TMED9
Variant:p.K47R

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.K47R
c.140A>G
Surrounding Variants
1 paper
NM_017510.6
p.K47insFs
c.140_141ins4
1 paper
NM_017510.6
p.E46K
c.136G>A
1 paper
NM_017510.6
p.C49S
c.145T>A
1 paper
NM_017510.6
p.C49S
c.146G>C
2 papers
NM_017510.6
p.I54V
c.160A>G
1 paper
NM_017510.6
p.I54M
c.162C>G
1 paper
NM_017510.6
p.E57K
c.169G>A
1 paper
NM_017510.6
p.T58insFs
c.173_174insA
1 paper
NM_017510.6
p.T58T
c.174C>T
2 papers
NM_017510.6
p.G35E
c.104G>A
1 paper
NM_017510.6
p.G35A
c.104G>C
1 paper
NM_017510.6
p.I61insFs
c.182dupT
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