Varaico: Literature-Extracted Genetic Variants

Gene:TMED2
Variant:p.L55Q

TMED2

277 papers

Pfam Domains

EMP24_GP25Laa 20–196UCSCemp24/gp25L/p24 family/GOLD

Gene Aliases

HGNC Name

transmembrane p24 trafficking protein 2

HGNC Alias Symbols

RNP24; P24A; p24beta1; p24b1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006815.4
p.L55Q
c.164T>A
Surrounding Variants
1 paper
NM_006815.4
p.L55M
c.163C>A
1 paper
NM_006815.4
p.I57_E60del4
c.169_179del12
1 paper
NM_006815.4
p.F54I
c.160T>A
1 paper
NM_006815.4
p.G52G
c.156C>A
1 paper
NM_006815.4
p.V59A
c.176T>C
3 papers
NM_006815.4
p.E60_I61Splc
c.180+1G>C
1 paper
NM_006815.4
p.E48D
c.144G>C
1 paper
NM_006815.4
p.E48D
c.144G>T
1 paper
NM_006815.4
p.L45I
c.133C>A
1 paper
NM_006815.4
p.S39T
c.115T>A
2 papers
NM_006815.4
p.V37D
c.110T>A
1 paper
NM_006815.4
p.R36insFs
c.108dupG
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