Varaico: Literature-Extracted Genetic Variants

SIAE

47 papers

RefSeq Summary

This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript varian...

Pfam Domains

SASAaa 117–377UCSCCarbohydrate esterase, sialic acid-specific acetylesterase

SIAE_Caa 410–510UCSCSialate O-acetylesterase C-terminal domain

Gene Aliases

HGNC Name

sialic acid acetylesterase

HGNC Previous Symbol

YSG2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_170601.5

p.V459I

c.1375G>A

Surrounding Variants

2 papers

NM_170601.5

p.M456I

c.1368G>T

2 papers

NM_170601.5

p.M456I

c.1368G>C

2 papers

NM_170601.5

p.M456I

c.1368G>A

1 paper

NM_170601.5

p.M456T

c.1367T>C

2 papers

NM_170601.5

p.Q462R

c.1385A>G

1 paper

NM_001199922.2

p.A419V

c.1256C>T

7 papers

NM_170601.5

p.A467V

c.1400C>T

1 paper

NM_170601.5

p.I468I

c.1404C>A

2 papers

NM_170601.5

p.H447R

c.1340A>G

2 papers

NM_170601.5

p.H472Q

c.1416T>G

2 papers

NM_170601.5

p.H472Q

c.1416T>A

1 paper

NM_001199922.2

p.T439I

c.1316C>T