Varaico: Literature-Extracted Genetic Variants

Gene:DISP3
Variant:p.W730L

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.W730L
c.2189G>T
Surrounding Variants
1 paper
NM_020780.2
p.R729C
c.2185C>T
1 paper
NM_020780.2
p.L716L
c.2148G>A
1 paper
NM_020780.2
p.L713_H719del0
c.2138_2155del18
1 paper
NM_020780.2
p.T703M
c.2108C>T
1 paper
NM_020780.2
p.P699S
c.2095C>T
1 paper
NM_020780.2
p.Q698H
c.2094G>C
1 paper
NM_020780.2
p.Q698H
c.2094G>T
1 paper
NM_020780.2
p.V692E
c.2075T>A
1 paper
NM_020780.2
p.V680V
c.2040G>A
1 paper
NM_020780.2
p.V675V
c.2025C>A
1 paper
NM_020780.2
p.P671S
c.2011C>T
4 papers
NM_020780.2
p.G661A
c.1982G>C
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