Varaico: Literature-Extracted Genetic Variants

Gene:DISP3
Variant:p.A243V

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.A243V
c.728C>T
Surrounding Variants
1 paper
NM_020780.2
p.A244A
c.732C>A
1 paper
NM_020780.2
p.V242L
c.724G>C
1 paper
NM_020780.2
p.Q246H
c.738G>C
1 paper
NM_020780.2
p.Q246H
c.738G>T
1 paper
NM_020780.2
p.R248_G252ins1
c.744_755dup12
1 paper
NM_020780.2
p.R250H
c.749G>A
1 paper
NM_020780.2
p.R251Q
c.752G>A
1 paper
NM_020780.2
p.R251R
c.753A>T
1 paper
NM_020780.2
p.Q233H
c.699G>C
1 paper
NM_020780.2
p.Q233H
c.699G>T
1 paper
NM_020780.2
p.W256L
c.767G>T
1 paper
NM_020780.2
p.R260H
c.779G>A
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