SIAE c.379_380delinsGC ;(p.S127A)

Variant ID: 11-124530549-CT-GC

NM_170601.4(SIAE):c.379_380delinsGC;(p.S127A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Human Sialic acid O-acetyl esterase (SIAE) - mediated changes in sensitivity to etoposide in a medulloblastoma cell line.

Scientific Reports
Mather, Rebecca L RL; Loveson, Katie F KF; Fillmore, Helen L HL
Publication Date: 2019-06-13

Variant appearance in text: SIAE: S127A
PubMed Link: 31197190
Variant Present in the following documents:
  • Main text
  • 41598_2019_44950_MOESM1_ESM.pdf
  • 41598_2019_Article_44950.pdf
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M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal.

Plos One
Chellappa, Vasant V; Taylor, Kendra N KN; Pedrick, Kathryn K; Donado, Carlos C; Netravali, Ilka Arun IA; Haider, Khaleda K; Cariappa, Annaiah A; Dalomba, Natasha F NF; Pillai, Shiv S
Publication Date: 2013

Variant appearance in text: SIAE: S127A
PubMed Link: 23308225
Variant Present in the following documents:
  • Main text
  • pone.0053453.pdf
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Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes.

Genes And Immunity
Hirschfield, G M GM; Xie, G G; Lu, E E; Sun, Y Y; Juran, B D BD; Chellappa, V V; Coltescu, C C; Mason, A L AL; Milkiewicz, P P; Myers, R P RP; Odin, J A JA; Luketic, V A VA; Bacon, B B; Bodenheimer, H H; Liakina, V V; Vincent, C C; Levy, C C; Pillai, S S; Lazaridis, K N KN; Amos, C I CI; Siminovitch, K A KA
Publication Date: 2012-06

Variant appearance in text: SIAE: S127A
PubMed Link: 22257840
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.

Nature
Surolia, Ira I; Pirnie, Stephan P SP; Chellappa, Vasant V; Taylor, Kendra N KN; Cariappa, Annaiah A; Moya, Jesse J; Liu, Haoyuan H; Bell, Daphne W DW; Driscoll, David R DR; Diederichs, Sven S; Haider, Khaleda K; Netravali, Ilka I; Le, Sheila S; Elia, Roberto R; Dow, Ethan E; Lee, Annette A; Freudenberg, Jan J; De Jager, Philip L PL; Chretien, Yves Y; Varki, Ajit A; MacDonald, Marcy E ME; Gillis, Tammy T; Behrens, Timothy W TW; Bloch, Donald D; Collier, Deborah D; Korzenik, Joshua J; Podolsky, Daniel K DK; Hafler, David D; Murali, Mandakolathur M; Sands, Bruce B; Stone, John H JH; Gregersen, Peter K PK; Pillai, Shiv S
Publication Date: 2010-07-08

Variant appearance in text: SIAE: S127A
PubMed Link: 20555325
Variant Present in the following documents:
  • Main text
  • nihms199054.pdf
  • NIHMS199054-supplement-1.pdf
View BVdb publication page