Varaico: Literature-Extracted Genetic Variants

Gene:TMED3
Variant:p.Q56_V57Splc

TMED3

147 papers

Pfam Domains

EMP24_GP25Laa 28–138UCSCemp24/gp25L/p24 family/GOLD
EMP24_GP25Laa 28–206UCSCemp24/gp25L/p24 family/GOLD

Gene Aliases

HGNC Name

transmembrane p24 trafficking protein 3

HGNC Previous Symbol

C15orf22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_007364.4
p.Q56_V57Splc
c.169-2A>G
Surrounding Variants
1 paper
NM_007364.4
p.Q56_V57Splc
c.169-1G>A
1 paper
NM_007364.4
p.T59insFs
c.175dupA
1 paper
NM_007364.4
p.T59fs
c.175_176fs
1 paper
NM_007364.4
p.T59I
c.176C>T
1 paper
NM_007364.4
p.V65I
c.193G>A
1 paper
NM_007364.4
p.D66N
c.196G>A
1 paper
NM_007364.4
p.D66Y
c.196G>T
1 paper
NM_007364.4
p.V69V
c.207A>G
1 paper
NM_007364.4
p.Q73K
c.217C>A
1 paper
NM_007364.4
p.Q73*
c.217C>T
1 paper
NM_007364.4
p.N75_E80insFs
c.224_240dup17
1 paper
NM_007364.4
p.T76I
c.227C>T
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