LRRK2 c.936G>A ;(p.A312=)

Variant ID: 12-40643725-G-A

NM_198578.3(LRRK2):c.936G>A;(p.A312=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12

Variant appearance in text: N/A
PubMed Link: 34879060
Variant Present in the following documents:
View BVdb publication page



Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12-08

Variant appearance in text: N/A
PubMed Link: 34879060
Variant Present in the following documents:
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: N/A
PubMed Link: 29221171
Variant Present in the following documents:
View BVdb publication page



Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Nature Communications
Li, Yvonne Y YY; Chung, Grace T Y GT; Lui, Vivian W Y VW; To, Ka-Fai KF; Ma, Brigette B Y BB; Chow, Chit C; Woo, John K S JK; Yip, Kevin Y KY; Seo, Jeongsun J; Hui, Edwin P EP; Mak, Michael K F MK; Rusan, Maria M; Chau, Nicole G NG; Or, Yvonne Y Y YY; Law, Marcus H N MH; Law, Peggy P Y PP; Liu, Zoey W Y ZW; Ngan, Hoi-Lam HL; Hau, Pok-Man PM; Verhoeft, Krista R KR; Poon, Peony H Y PH; Yoo, Seong-Keun SK; Shin, Jong-Yeon JY; Lee, Sau-Dan SD; Lun, Samantha W M SW; Jia, Lin L; Chan, Anthony W H AW; Chan, Jason Y K JY; Lai, Paul B S PB; Fung, Choi-Yi CY; Hung, Suet-Ting ST; Wang, Lin L; Chang, Ann Margaret V AM; Chiosea, Simion I SI; Hedberg, Matthew L ML; Tsao, Sai-Wah SW; van Hasselt, Andrew C AC; Chan, Anthony T C AT; Grandis, Jennifer R JR; Hammerman, Peter S PS; Lo, Kwok-Wai KW
Publication Date: 2017-01-18

Variant appearance in text: LRRK2: A312A
PubMed Link: 28098136
Variant Present in the following documents:
  • ncomms14121-s5.xlsx, sheet 1
View BVdb publication page