Varaico: Literature-Extracted Genetic Variants

Gene:TMED9
Variant:p.H113R

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.H113R
c.338A>G
Surrounding Variants
1 paper
NM_017510.6
p.H113D
c.337C>G
1 paper
NM_017510.6
p.T114A
c.340A>G
1 paper
NM_017510.6
p.T114T
c.342C>A
1 paper
NM_017510.6
p.S112T
c.334T>A
1 paper
NM_017510.6
p.R107G
c.319A>G
1 paper
NM_017510.6
p.Q119Q
c.357G>A
1 paper
NM_017510.6
p.G106V
c.317G>T
1 paper
NM_017510.6
p.E105_G106delFs
c.315_318del4
1 paper
NM_017510.6
p.N125S
c.374A>G
2 papers
NM_017510.6
p.S126T
c.376T>A
1 paper
NM_017510.6
p.S126P
c.376T>C
1 paper
NM_017510.6
p.A99V
c.296C>T
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