Varaico: Literature-Extracted Genetic Variants

Gene:DISP3
Variant:p.S940T

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.S940T
c.2818T>A
Surrounding Variants
1 paper
NM_020780.2
p.P944S
c.2830C>T
2 papers
NM_020780.2
p.P944L
c.2831C>T
1 paper
NM_020780.2
p.H946R
c.2837A>G
1 paper
NM_020780.2
p.P953T
c.2857C>A
1 paper
NM_020780.2
p.G955G
c.2865C>T
1 paper
NM_020780.2
p.D963N
c.2887G>A
1 paper
NM_020780.2
p.P965H
c.2894C>A
1 paper
NM_020780.2
p.G968S
c.2902G>A
1 paper
NM_020780.2
p.G968D
c.2903G>A
1 paper
NM_020780.2
p.S974T
c.2921G>C
1 paper
NM_020780.2
p.R981C
c.2941C>T
2 papers
NM_020780.2
p.R981H
c.2942G>A
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