Varaico: Literature-Extracted Genetic Variants

Gene:DISP3

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
1–12 of 182 variants
12 papers
NM_020780.2
p.G182S
c.544G>A
9 papers
NM_020780.2
p.A650T
c.1948G>A
7 papers
NM_020780.2
p.Q217L
c.650A>T
6 papers
NM_020780.2
p.G39R
c.115G>A
6 papers
NM_020780.2
p.G39R
c.115G>C
6 papers
NM_020780.2
p.R542H
c.1625G>A
4 papers
NM_020780.2
p.G661A
c.1982G>C
2 papers
NM_020780.2
p.L51V
c.151C>G
2 papers
NM_020780.2
p.R170Q
c.509G>A
2 papers
NM_020780.2
p.A753T
c.2257G>A
2 papers
NM_020780.2
p.P944L
c.2831C>T
2 papers
NM_020780.2
p.R981H
c.2942G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."