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.N107K

c.321C>G

Surrounding Variants

1 paper

NM_170601.5

p.N107K

c.321C>A

1 paper

NM_001199922.2

p.I71T

c.212T>C

1 paper

NM_170601.5

p.I106_N107insG

c.316_320ins3

1 paper

NM_170601.5

p.T109T

c.327C>T

1 paper

NM_170601.5

p.H113R

c.338A>G

1 paper

NM_170601.5

p.Q101K

c.301C>A

1 paper

NM_170601.5

p.E96K

c.286G>A

1 paper

NM_170601.5

p.P94H

c.281C>A

1 paper

NM_170601.5

p.P91R

c.272C>G

12 papers

NM_170601.5

p.M89V

c.265A>G

1 paper

NM_170601.5

p.M129L

c.385A>T

1 paper

NM_170601.5

p.T132S

c.394A>T