Varaico: Literature-Extracted Genetic Variants

Gene:TMED7
Variant:p.Q64_V65Splc

TMED7

544 papers

Pfam Domains

EMP24_GP25Laa 36–213UCSCemp24/gp25L/p24 family/GOLD

Gene Aliases

HGNC Name

transmembrane p24 trafficking protein 7

HGNC Alias Symbols

CGI-109; FLJ90481; p24gamma3; p24g3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181836.6
p.Q64_V65Splc
c.193-5T>A
Surrounding Variants
1 paper
NM_181836.6
p.Q64_V65Splc
c.193-1G>A
1 paper
NM_181836.6
p.V65_I66insFs
c.195_196insT
1 paper
NM_181836.6
p.V65_I66insFs
c.195_196insA
3 papers
NM_181836.6
p.I66N
c.197T>A
5 papers
NM_181836.6
p.I66I
c.198T>A
1 paper
NM_181836.6
p.H70delFs
c.208delG
1 paper
NM_181836.6
p.D72N
c.214G>A
1 paper
NM_181836.6
p.D72E
c.216T>A
2 papers
NM_181836.6
p.D74N
c.220G>A
1 paper
NM_181836.6
p.D74E
c.222T>A
1 paper
NM_181836.6
p.R76*
c.226C>T
1 paper
NM_181836.6
p.D81A
c.242A>C
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