Varaico: Literature-Extracted Genetic Variants

Gene:DISP3
Variant:p.R204Q

DISP3

149 papers

Pfam Domains

Sterol-sensingaa 480–628UCSCSterol-sensing domain of SREBP cleavage-activation
DUF7023aa 820–1008UCSCDomain of unknown function (DUF7023)
MMPLaa 1169–1359UCSCMMPL family

Gene Aliases

HGNC Name

dispatched RND transporter family member 3

HGNC Previous Symbol

PTCHD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020780.2
p.R204Q
c.611G>A
Surrounding Variants
1 paper
NM_020780.2
p.E206D
c.618G>C
1 paper
NM_020780.2
p.E206D
c.618G>T
1 paper
NM_020780.2
p.S200G
c.598A>G
1 paper
NM_020780.2
p.P195P
c.585C>T
1 paper
NM_020780.2
p.A215S
c.643G>T
7 papers
NM_020780.2
p.Q217L
c.650A>T
1 paper
NM_020780.2
p.G184V
c.551G>T
1 paper
NM_020780.2
p.P183T
c.547C>A
12 papers
NM_020780.2
p.G182S
c.544G>A
1 paper
NM_020780.2
p.Q233H
c.699G>C
1 paper
NM_020780.2
p.Q233H
c.699G>T
2 papers
NM_020780.2
p.R170Q
c.509G>A
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