Varaico: Literature-Extracted Genetic Variants

Gene:DISP3
Variant:p.E22K

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.E22K
c.64G>A
Surrounding Variants
1 paper
NM_020780.2
p.E20K
c.58G>A
1 paper
NM_020780.2
p.E19insFs
c.56_57ins13
1 paper
NM_020780.2
p.L14L
c.42A>G
1 paper
NM_020780.2
p.W13insFs
c.37_38ins4
6 papers
NM_020780.2
p.G39R
c.115G>A
6 papers
NM_020780.2
p.G39R
c.115G>C
1 paper
NM_020780.2
p.E4K
c.10G>A
1 paper
NM_020780.2
p.G41R
c.121G>A
1 paper
NM_020780.2
p.G41R
c.121G>C
1 paper
NM_020780.2
p.R47G
c.139C>G
1 paper
NM_020780.2
p.P50T
c.148C>A
2 papers
NM_020780.2
p.L51V
c.151C>G
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