CASP3 c.-16+1506G>A

Variant ID: 4-185568113-C-T

NM_004346.4(CASP3):c.-16+1506G>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

The Journal Of Experimental Medicine
Sancho-Shimizu, Vanessa V; Brodin, Petter P; Cobat, Aurélie A; Biggs, Catherine M CM; Toubiana, Julie J; Lucas, Carrie L CL; Henrickson, Sarah E SE; Belot, Alexandre A; , ; Tangye, Stuart G SG; Milner, Joshua D JD; Levin, Michael M; Abel, Laurent L; Bogunovic, Dusan D; Casanova, Jean-Laurent JL; Zhang, Shen-Ying SY
Publication Date: 2021-06-07

Variant appearance in text: rs2720378
PubMed Link: 33904890
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease.

European Journal Of Human Genetics : Ejhg
Hoggart, Clive C; Shimizu, Chisato C; Galassini, Rachel R; Wright, Victoria J VJ; Shailes, Hannah H; Bellos, Evan E; Herberg, Jethro A JA; Pollard, Andrew J AJ; O'Connor, Daniel D; Choi, Shing Wan SW; Seaby, Eleanor G EG; Menikou, Stephanie S; Hibberd, Martin M; Sallah, Neneh N; Burgner, David D; Brogan, Paul P; Patel, Harsita H; Kim, Jihoon J; Tremoulet, Adriana H AH; Salo, Eeva E; van Stijn, Diana D; Kuijpers, Taco T; Burns, Jane C JC; Levin, Michael M; , ; , ; ,
Publication Date: 2021-12

Variant appearance in text: rs2720378
PubMed Link: 33772158
Variant Present in the following documents:
  • Main text
  • 41431_2021_Article_838.pdf
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Association of an IGHV3-66 gene variant with Kawasaki disease.

Journal Of Human Genetics
Johnson, Todd A TA; Mashimo, Yoichi Y; Wu, Jer-Yuarn JY; Yoon, Dankyu D; Hata, Akira A; Kubo, Michiaki M; Takahashi, Atsushi A; Tsunoda, Tatsuhiko T; Ozaki, Kouichi K; Tanaka, Toshihiro T; Ito, Kaoru K; Suzuki, Hiroyuki H; Hamada, Hiromichi H; Kobayashi, Tohru T; Hara, Toshiro T; Chen, Chien-Hsiun CH; Lee, Yi-Ching YC; Liu, Yi-Min YM; Chang, Li-Ching LC; Chang, Chun-Ping CP; Hong, Young-Mi YM; Jang, Gi-Young GY; Yun, Sin-Weon SW; Yu, Jeong-Jin JJ; Lee, Kyung-Yil KY; Kim, Jae-Jung JJ; Park, Taesung T; , ; Lee, Jong-Keuk JK; Chen, Yuan-Tsong YT; Onouchi, Yoshihiro Y
Publication Date: 2021-05

Variant appearance in text: rs2720378
PubMed Link: 33106546
Variant Present in the following documents:
  • Main text
  • 10038_2020_Article_864.pdf
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Biomarkers for Kawasaki Disease: Clinical Utility and the Challenges Ahead.

Frontiers In Pediatrics
Chaudhary, Himanshi H; Nameirakpam, Johnson J; Kumrah, Rajni R; Pandiarajan, Vignesh V; Suri, Deepti D; Rawat, Amit A; Singh, Surjit S
Publication Date: 2019

Variant appearance in text: rs2720378
PubMed Link: 31275907
Variant Present in the following documents:
  • Main text
  • fped-07-00242.pdf
View BVdb publication page



Kawasaki disease: etiopathogenesis and novel treatment strategies.

Expert Review Of Clinical Immunology
Agarwal, Shreya S; Agrawal, Devendra K DK
Publication Date: 2017-03

Variant appearance in text: rs2720378
PubMed Link: 27590181
Variant Present in the following documents:
  • Main text
View BVdb publication page



The roles of Ca2+/NFAT signaling genes in Kawasaki disease: single- and multiple-risk genetic variants.

Scientific Reports
Wang, Wei W; Lou, Jiao J; Zhong, Rong R; Qi, Yan-qi YQ; Shen, Na N; Lu, Xu-zai XZ; Wang, Yu-jia YJ; Zhang, Qing Q; Zou, Li L; Duan, Jia-yu JY; Ke, Jun-tao JT; Miao, Xiao-ping XP; Gong, Fang-qi FQ
Publication Date: 2014-06-06

Variant appearance in text: rs2720378
PubMed Link: 24903211
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants in CASP3 confer susceptibility to Kawasaki disease.

Human Molecular Genetics
Onouchi, Yoshihiro Y; Ozaki, Kouichi K; Buns, Jane C JC; Shimizu, Chisato C; Hamada, Hiromichi H; Honda, Takafumi T; Terai, Masaru M; Honda, Akihito A; Takeuchi, Takashi T; Shibuta, Shoichi S; Suenaga, Tomohiro T; Suzuki, Hiroyuki H; Higashi, Kouji K; Yasukawa, Kumi K; Suzuki, Yoichi Y; Sasago, Kumiko K; Kemmotsu, Yasushi Y; Takatsuki, Shinichi S; Saji, Tsutomu T; Yoshikawa, Tetsushi T; Nagai, Toshiro T; Hamamoto, Kunihiro K; Kishi, Fumio F; Ouchi, Kazunobu K; Sato, Yoshitake Y; Newburger, Jane W JW; Baker, Annette L AL; Shulman, Stanford T ST; Rowley, Anne H AH; Yashiro, Mayumi M; Nakamura, Yoshikazu Y; Wakui, Keiko K; Fukushima, Yoshimitsu Y; Fujino, Akihiro A; Tsunoda, Tatsuhiko T; Kawasaki, Tomisaku T; Hata, Akira A; Nakamura, Yusuke Y; Tanaka, Toshihiro T
Publication Date: 2010-07-15

Variant appearance in text: rs2720378
PubMed Link: 20423928
Variant Present in the following documents:
  • Main text
View BVdb publication page



Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.

American Journal Of Medical Genetics. Part A
Ester, Audrey R AR; Weymouth, Katelyn S KS; Burt, Amber A; Wise, Carol A CA; Scott, Allison A; Gurnett, Christina A CA; Dobbs, Matthew B MB; Blanton, Susan H SH; Hecht, Jacqueline T JT
Publication Date: 2009-12

Variant appearance in text: rs2720378
PubMed Link: 19938081
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms and haplotypes in the caspase-3, caspase-7, and caspase-8 genes and risk for endometrial cancer: a population-based, case-control study in a Chinese population.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Xu, Hong-Li HL; Xu, Wang-Hong WH; Cai, Qiuyin Q; Feng, Min M; Long, Jirong J; Zheng, Wei W; Xiang, Yong-Bing YB; Shu, Xiao-Ou XO
Publication Date: 2009-07

Variant appearance in text: rs2720378
PubMed Link: 19531679
Variant Present in the following documents:
  • Main text
View BVdb publication page