NR0B2 c.76_77delinsGC ;(p.S26A)

Variant ID: 1-27240355-CT-GC

NM_021969.2(NR0B2):c.76_77delinsGC;(p.S26A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Differentiated demographic histories and local adaptations between Sherpas and Tibetans.

Genome Biology
Zhang, Chao C; Lu, Yan Y; Feng, Qidi Q; Wang, Xiaoji X; Lou, Haiyi H; Liu, Jiaojiao J; Ning, Zhilin Z; Yuan, Kai K; Wang, Yuchen Y; Zhou, Ying Y; Deng, Lian L; Liu, Lijun L; Yang, Yajun Y; Li, Shilin S; Ma, Lifeng L; Zhang, Zhiying Z; Jin, Li L; Su, Bing B; Kang, Longli L; Xu, Shuhua S
Publication Date: 2017-06-15

Variant appearance in text: SHP: S26a
PubMed Link: 28619099
Variant Present in the following documents:
  • Main text
  • 13059_2017_Article_1242.pdf
View BVdb publication page



Small heterodimer partner interacts with NLRP3 and negatively regulates activation of the NLRP3 inflammasome.

Nature Communications
Yang, Chul-Su CS; Kim, Jwa-Jin JJ; Kim, Tae Sung TS; Lee, Phil Young PY; Kim, Soo Yeon SY; Lee, Hye-Mi HM; Shin, Dong-Min DM; Nguyen, Loi T LT; Lee, Moo-Seung MS; Jin, Hyo Sun HS; Kim, Kwang-Kyu KK; Lee, Chul-Ho CH; Kim, Myung Hee MH; Park, Sung Goo SG; Kim, Jin-Man JM; Choi, Hueng-Sik HS; Jo, Eun-Kyeong EK
Publication Date: 2015-02-06

Variant appearance in text: SHP: S26A
PubMed Link: 25655831
Variant Present in the following documents:
  • Main text
  • ncomms7115.pdf
View BVdb publication page



Bile acid signaling pathways increase stability of Small Heterodimer Partner (SHP) by inhibiting ubiquitin-proteasomal degradation.

Genes & Development
Miao, Ji J; Xiao, Zhen Z; Kanamaluru, Deepthi D; Min, Gyesik G; Yau, Peter M PM; Veenstra, Timothy D TD; Ellis, Ewa E; Strom, Steve S; Suino-Powell, Kelly K; Xu, H Eric HE; Kemper, Jongsook Kim JK
Publication Date: 2009-04-15

Variant appearance in text: SHP: S26A
PubMed Link: 19390091
Variant Present in the following documents:
  • Main text
View BVdb publication page