Varaico: Literature-Extracted Genetic Variants

Gene:DISP3
Variant:p.M594T

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.M594T
c.1781T>C
Surrounding Variants
1 paper
NM_020780.2
p.D589V
c.1766A>T
1 paper
NM_020780.2
p.A586D
c.1757C>A
1 paper
NM_020780.2
p.A604V
c.1811C>T
1 paper
NM_020780.2
p.V605M
c.1813G>A
1 paper
NM_020780.2
p.L618_Y619insFs
c.1854_1855dupCT
1 paper
NM_020780.2
p.Y619fs
c.1855_1856fs
6 papers
NM_020780.2
p.R542H
c.1625G>A
1 paper
NM_020780.2
p.D532D
c.1596C>T
1 paper
NM_020780.2
p.R637W
c.1909C>T
1 paper
NM_020780.2
p.R637Q
c.1910G>A
1 paper
NM_020780.2
p.G645R
c.1933G>A
1 paper
NM_020780.2
p.G645R
c.1933G>C
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