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.Y495*

c.1485C>G

Surrounding Variants

1 paper

NM_170601.5

p.Y495*

c.1485C>A

1 paper

NM_170601.5

p.L494L

c.1482A>G

1 paper

NM_170601.5

p.K490K

c.1470G>A

1 paper

NM_170601.5

p.P486S

c.1456C>T

2 papers

NM_170601.5

p.T484T

c.1452G>A

4 papers

NM_170601.5

p.R479C

c.1435C>T

1 paper

NM_170601.5

p.G514A

c.1541G>C

1 paper

NM_001199922.2

p.T439I

c.1316C>T

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.S484S

c.1452C>T

1 paper

NM_170601.5

p.N520K

c.1560T>G