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

3 papers

NM_170601.5

p.N33S

c.98A>G

Surrounding Variants

1 paper

NM_170601.5

p.Y31C

c.92A>G

1 paper

NM_170601.5

p.M36insFs

c.106_107insG

1 paper

NM_170601.5

p.R27H

c.80G>A

1 paper

NM_170601.5

p.A45S

c.133G>T

3 papers

NM_170601.5

p.W48*

c.143G>A

3 papers

NM_170601.5

p.W48*

c.144G>A

1 paper

NM_170601.5

p.G23Splc

c.68-31T>C

1 paper

NM_170601.5

p.V57V

c.171G>T

2 papers

NM_170601.5

p.R62H

c.185G>A

5 papers

NM_170601.5

p.G64S

c.190G>A

1 paper

NM_170601.5

p.M69L

c.205A>T

1 paper

NM_170601.5

p.K71insFs

c.211_212insG