Varaico: Literature-Extracted Genetic Variants

Gene:DISP3
Variant:p.R981C

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.R981C
c.2941C>T
Surrounding Variants
2 papers
NM_020780.2
p.R981H
c.2942G>A
1 paper
NM_020780.2
p.G997R
c.2989G>A
1 paper
NM_020780.2
p.G997R
c.2989G>C
1 paper
NM_020780.2
p.R1002Q
c.3005G>A
1 paper
NM_020780.2
p.G1008R
c.3022G>A
1 paper
NM_020780.2
p.G1008R
c.3022G>C
1 paper
NM_020780.2
p.G1016D
c.3047G>A
1 paper
NM_020780.2
p.V1020I
c.3058G>A
1 paper
NM_020780.2
p.S974T
c.2921G>C
1 paper
NM_020780.2
p.G968D
c.2903G>A
1 paper
NM_020780.2
p.G968S
c.2902G>A
1 paper
NM_020780.2
p.P965H
c.2894C>A
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