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

6 papers

NM_170601.5

p.F404S

c.1211T>C

Surrounding Variants

1 paper

NM_170601.5

p.K400N

c.1200G>T

1 paper

NM_170601.5

p.K400N

c.1200G>C

1 paper

NM_170601.5

p.A394T

c.1180G>A

2 papers

NM_170601.5

p.R393H

c.1178G>A

1 paper

NM_170601.5

p.R393C

c.1177C>T

1 paper

NM_170601.5

p.L390insFs

c.1168_1169insC

1 paper

NM_170601.5

p.G419E

c.1256G>A

1 paper

NM_170601.5

p.R387W

c.1159C>T

1 paper

NM_170601.5

p.A385T

c.1153G>A

2 papers

NM_170601.5

p.Q382R

c.1145A>G

1 paper

NM_170601.5

p.Q428L

c.1283A>T

1 paper

NM_170601.5

p.R379*

c.1135C>T