Varaico: Literature-Extracted Genetic Variants

Gene:TMED10
Variant:p.L124P

TMED10

246 papers

RefSeq Summary

This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in ve...

Pfam Domains

EMP24_GP25Laa 31–213UCSCemp24/gp25L/p24 family/GOLD

Gene Aliases

HGNC Name

transmembrane p24 trafficking protein 10

HGNC Alias Symbols

TMP21; P24(DELTA); p24d1; p24delta1; p23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006827.6
p.L124P
c.371T>C
Surrounding Variants
1 paper
NM_006827.6
p.V122_I123del2
c.364_368del6
1 paper
NM_006827.6
p.D125Y
c.373G>T
1 paper
NM_006827.6
p.V122_L124del3
c.364_371del9
1 paper
NM_006827.6
p.R116_D125delFs
c.348_373del26
1 paper
NM_006827.6
p.H128D
c.382C>G
1 paper
NM_006827.6
p.G129*
c.385G>T
1 paper
NM_006827.6
p.D119_Q120insFs
c.357_358insG
1 paper
NM_006827.6
p.D119Y
c.355G>T
1 paper
NM_006827.6
p.I117T
c.350T>C
1 paper
NM_006827.6
p.R116W
c.346C>T
1 paper
NM_006827.6
p.R116R
c.346C>A
2 papers
NM_006827.6
p.G113Splc
c.338-1G>C
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