Varaico: Literature-Extracted Genetic Variants

Gene:TMED2
Variant:p.V179I

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
2 papers
NM_006815.4
p.V179I
c.535G>A
Surrounding Variants
3 papers
NM_006815.4
p.V179D
c.536T>A
1 paper
NM_006815.4
p.L178delFs
c.533delT
1 paper
NM_006815.4
p.A177P
c.529G>C
1 paper
NM_006815.4
p.E176G
c.527A>G
1 paper
NM_006815.4
p.E176V
c.527A>T
1 paper
NM_006815.4
p.E176K
c.526G>A
1 paper
NM_006815.4
p.F175delFs
c.524delT
1 paper
NM_006815.4
p.T184I
c.551C>T
3 papers
NM_006815.4
p.T184_L185insFs
c.552_553ins4
1 paper
NM_006815.4
p.S173T
c.517T>A
1 paper
NM_006815.4
p.S173P
c.517T>C
1 paper
NM_006815.4
p.S173A
c.517T>G
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