Varaico: Literature-Extracted Genetic Variants

Gene:TMED9
Variant:p.L31L

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.L31L
c.93G>A
Surrounding Variants
1 paper
NM_017510.6
p.T33S
c.97A>T
2 papers
NM_017510.6
p.T33_G35Fs
c.98_104delinsTCCFs
2 papers
NM_017510.6
p.G35E
c.104G>A
1 paper
NM_017510.6
p.V28L
c.82G>C
1 paper
NM_017510.6
p.G35A
c.104G>C
1 paper
NM_017510.6
p.L27Q
c.80T>A
1 paper
NM_017510.6
p.L26Q
c.77T>A
1 paper
NM_017510.6
p.R23Q
c.68G>A
1 paper
NM_017510.6
p.V21V
c.63G>T
1 paper
NM_017510.6
p.M22_T33del12
c.64_98del36
1 paper
NM_017510.6
p.R20K
c.59G>A
1 paper
NM_017510.6
p.E46K
c.136G>A
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