Varaico: Literature-Extracted Genetic Variants

Gene:TMED9
Variant:p.R191delFs

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.R191delFs
c.571delC
Surrounding Variants
1 paper
NM_017510.6
p.Q194*
c.580C>T
1 paper
NM_017510.6
p.R202G
c.604C>G
2 papers
NM_017510.6
p.L204L
c.612G>A
1 paper
NM_017510.6
p.W206delFs
c.616delT
1 paper
NM_017510.6
p.I208_L209del2
c.622_626del6
1 paper
NM_017510.6
p.I208delFs
c.623delT
1 paper
NM_017510.6
p.Q210R
c.629A>G
2 papers
NM_017510.6
p.L212I
c.634C>A
1 paper
NM_017510.6
p.V215L
c.643G>C
1 paper
NM_017510.6
p.V215L
c.643G>T
1 paper
NM_017510.6
p.I217_G218delFs
c.649_652del4
1 paper
NM_017510.6
p.E230K
c.688G>A
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