Varaico: Literature-Extracted Genetic Variants

Gene:DSE
Variant:p.V333fs

DSE

55 papers

RefSeq Summary

The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of der...

Pfam Domains

DUF4962aa 43–374UCSCDomain of unknown function (DUF4962)
DUF4962aa 43–374UCSCDomain of unknown function (DUF4962)

Gene Aliases

HGNC Name

dermatan sulfate epimerase

HGNC Previous Symbol

SART2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_013352.4
p.V333fs
c.997_998fs
Surrounding Variants
2 papers
NM_013352.4
p.F332insFs
c.996dupT
1 paper
NM_013352.4
p.N336S
c.1007A>G
1 paper
NM_013352.4
p.V327_M334insFs
c.981_1000dup20
4 papers
NM_013352.4
p.Y320*
c.960T>A
4 papers
NM_013352.4
p.Y320*
c.960T>G
1 paper
NM_013352.4
p.W318delFs
c.952delT
1 paper
NM_013352.4
p.P383A
c.1147C>G
3 papers
NM_013352.4
p.P384_F386delFs
c.1150_1157del8
5 papers
NM_013352.4
p.P384fs
c.1150_1151fs
1 paper
NM_013352.4
p.G387delFs
c.1160delG
1 paper
NM_013352.4
p.G387fs
c.1159_1160fs
1 paper
NM_013352.4
p.L391L
c.1173G>A
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