LAMC2 c.889A>G ;(p.T297A)

Variant ID: 1-183192395-A-G

NM_005562.2(LAMC2):c.889A>G;(p.T297A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: LAMC2: T297A
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: LAMC2: T297A
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 2
  • mmc6.xlsx, sheet 1
View BVdb publication page



Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31.

European Journal Of Human Genetics : Ejhg
Wang, Heming H; Nandakumar, Priyanka P; Tekola-Ayele, Fasil F; Tayo, Bamidele O BO; Ware, Erin B EB; Gu, C Charles CC; Lu, Yingchang Y; Yao, Jie J; Zhao, Wei W; Smith, Jennifer A JA; Hellwege, Jacklyn N JN; Guo, Xiuqing X; Edwards, Todd L TL; Loos, Ruth J F RJF; Arnett, Donna K DK; Fornage, Myriam M; Rotimi, Charles C; Kardia, Sharon L R SLR; Cooper, Richard S RS; Rao, D C DC; Ehret, Georg G; Chakravarti, Aravinda A; Zhu, Xiaofeng X
Publication Date: 2019-02

Variant appearance in text: rs143817389
PubMed Link: 30262922
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: LAMC2: T297A; rs143817389
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: LAMC2: T297A; rs143817389
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page