Varaico: Literature-Extracted Genetic Variants

Gene:TMED10
Variant:p.I48T

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.I48T
c.143T>C
Surrounding Variants
1 paper
NM_006827.6
p.E47G
c.140A>G
1 paper
NM_006827.6
p.C43_E46delFs
c.128_138del11
2 papers
NM_006827.6
p.E46A
c.137A>C
1 paper
NM_006827.6
p.K50_D51insFs
c.150_151ins4
1 paper
NM_006827.6
p.D51N
c.151G>A
1 paper
NM_006827.6
p.R45L
c.134G>T
1 paper
NM_006827.6
p.L52L
c.154C>T
1 paper
NM_006827.6
p.K50_D51delFs
c.150_153del4
1 paper
NM_006827.6
p.L53_V54delFs
c.157_160del4
1 paper
NM_006827.6
p.R41_K42del1
c.122_124delTGC
1 paper
NM_006827.6
p.R41delFs
c.122_123delGC
1 paper
NM_006827.6
p.N39_R41ins1
c.116_121dup6
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