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.N357S

c.1070A>G

Surrounding Variants

2 papers

NM_170601.5

p.P356L

c.1067C>T

5 papers

NM_170601.5

p.Y349C

c.1046A>G

1 paper

NM_170601.5

p.L366V

c.1096C>G

1 paper

NM_170601.5

p.G348S

c.1042G>A

1 paper

NM_170601.5

p.F347F

c.1041C>T

1 paper

NM_170601.5

p.R369K

c.1106G>A

1 paper

NM_170601.5

p.D370H

c.1108G>C

1 paper

NM_170601.5

p.S371L

c.1112C>T

1 paper

NM_170601.5

p.Q343P

c.1028A>C

1 paper

NM_170601.5

p.W341*

c.1023G>A

1 paper

NM_170601.5

p.W341*

c.1022G>A

2 papers

NM_170601.5

p.R340R

c.1020T>C