SIAE c.1435C>T ;(p.R479C)

Variant ID: 11-124506984-G-A

NM_170601.4(SIAE):c.1435C>T;(p.R479C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: SIAE: 1435C>T; Arg479Cys; rs376857712
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: SIAE: 1435C>T; R479C
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



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: R479C
PubMed Link: 23308225
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease.

European Journal Of Endocrinology
Gan, Earn H EH; MacArthur, Katie K; Mitchell, Anna L AL; Pearce, Simon H S SH
Publication Date: 2012-12

Variant appearance in text: SIAE: R479C
PubMed Link: 23011869
Variant Present in the following documents:
  • Main text
  • EJE120579.pdf
View BVdb publication page



Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.

Nature Genetics
Hunt, Karen A KA; Smyth, Deborah J DJ; Balschun, Tobias T; Ban, Maria M; Mistry, Vanisha V; Ahmad, Tariq T; Anand, Vidya V; Barrett, Jeffrey C JC; Bhaw-Rosun, Leena L; Bockett, Nicholas A NA; Brand, Oliver J OJ; Brouwer, Elisabeth E; Concannon, Patrick P; Cooper, Jason D JD; Dias, Kerith-Rae M KR; van Diemen, Cleo C CC; Dubois, Patrick C PC; Edkins, Sarah S; Fölster-Holst, Regina R; Fransen, Karin K; Glass, David N DN; Heap, Graham A R GA; Hofmann, Sylvia S; Huizinga, Tom W J TW; Hunt, Sarah S; Langford, Cordelia C; Lee, James J; Mansfield, John J; Marrosu, Maria Giovanna MG; Mathew, Christopher G CG; Mein, Charles A CA; Müller-Quernheim, Joachim J; Nutland, Sarah S; Onengut-Gumuscu, Suna S; Ouwehand, Willem W; Pearce, Kerra K; Prescott, Natalie J NJ; Posthumus, Marcel D MD; Potter, Simon S; Rosati, Giulio G; Sambrook, Jennifer J; Satsangi, Jack J; Schreiber, Stefan S; Shtir, Corina C; Simmonds, Matthew J MJ; Sudman, Marc M; Thompson, Susan D SD; Toes, Rene R; Trynka, Gosia G; Vyse, Timothy J TJ; Walker, Neil M NM; Weidinger, Stephan S; Zhernakova, Alexandra A; Zoledziewska, Magdalena M; , ; , ; , ; Weersma, Rinse K RK; Gough, Stephen C L SC; Sawcer, Stephen S; Wijmenga, Cisca C; Parkes, Miles M; Cucca, Francesco F; Franke, Andre A; Deloukas, Panos P; Rich, Stephen S SS; Todd, John A JA; van Heel, David A DA
Publication Date: 2011-12-27

Variant appearance in text: SIAE: R479C
PubMed Link: 22200769
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: 1435C>T; R479C
PubMed Link: 20555325
Variant Present in the following documents:
  • Main text
  • nihms199054.pdf
  • NIHMS199054-supplement-1.pdf
View BVdb publication page