Varaico: Literature-Extracted Genetic Variants

Gene:DSEL
Variant:p.I1113M

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
6 papers
NM_032160.3
p.I1113M
c.3339A>G
Surrounding Variants
1 paper
NM_032160.3
p.A1095V
c.3284C>T
1 paper
NM_032160.3
p.I1037N
c.3110T>A
1 paper
NM_032160.3
p.A1026_L1027insFs
c.3078_3079insT
1 paper
NM_032160.3
p.*1213S
c.3638A>C
1 paper
NM_032160.3
p.L1002V
c.3004C>G
1 paper
NM_032160.3
p.A987T
c.2959G>A
1 paper
NM_032160.3
p.Q949P
c.2846A>C
4 papers
NM_032160.3
p.P942S
c.2824C>T
1 paper
NM_032160.3
p.R917C
c.2749C>T
1 paper
NM_032160.3
p.K840E
c.2518A>G
1 paper
NM_032160.3
p.G838_S839insFs
c.2514_2515insCG
1 paper
NM_032160.3
p.W812*
c.2435G>A
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