Varaico: Literature-Extracted Genetic Variants

Gene:DSEL
Variant:p.S462R

DSEL

36 papers

Pfam Domains

DUF4962aa 62–392UCSCDomain of unknown function (DUF4962)
Sulfotransfer_1aa 852–1166UCSCSulfotransferase domain

Gene Aliases

HGNC Name

dermatan sulfate epimerase like

HGNC Previous Symbol

C18orf4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032160.3
p.S462R
c.1384A>C
Surrounding Variants
1 paper
NM_032160.3
p.S462R
c.1386T>G
1 paper
NM_032160.3
p.S462R
c.1386T>A
1 paper
NM_032160.3
p.N480S
c.1439A>G
1 paper
NM_032160.3
p.G481R
c.1441G>A
1 paper
NM_032160.3
p.A488V
c.1463C>T
1 paper
NM_032160.3
p.S495R
c.1483A>C
1 paper
NM_032160.3
p.S495R
c.1485C>G
1 paper
NM_032160.3
p.S495R
c.1485C>A
1 paper
NM_032160.3
p.K527insFs
c.1579_1580insCG
1 paper
NM_032160.3
p.H386Y
c.1156C>T
1 paper
NM_032160.3
p.R381T
c.1142G>C
1 paper
NM_032160.3
p.I329I
c.987A>T
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