SI c.118G>A ;(p.E40K)

Variant ID: 3-164793683-C-T

NM_001041.3(SI):c.118G>A;(p.E40K)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: SI: 118G>A; E40K
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
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Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ivansson, Emma L EL; Megquier, Kate K; Kozyrev, Sergey V SV; Murén, Eva E; Körberg, Izabella Baranowska IB; Swofford, Ross R; Koltookian, Michele M; Tonomura, Noriko N; Zeng, Rong R; Kolicheski, Ana L AL; Hansen, Liz L; Katz, Martin L ML; Johnson, Gayle C GC; Johnson, Gary S GS; Coates, Joan R JR; Lindblad-Toh, Kerstin K
Publication Date: 2016-05-31

Variant appearance in text: SI: 118G>A; E40K
PubMed Link: 27185954
Variant Present in the following documents:
  • Main text
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Rational stabilization of complex proteins: a divide and combine approach.

Scientific Reports
Lamazares, Emilio E; Clemente, Isabel I; Bueno, Marta M; Velázquez-Campoy, Adrián A; Sancho, Javier J
Publication Date: 2015-03-16

Variant appearance in text: SI: E40K
PubMed Link: 25774740
Variant Present in the following documents:
  • srep09129.pdf
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The mutational landscapes of genetic and chemical models of Kras-driven lung cancer.

Nature
Westcott, Peter M K PM; Halliwill, Kyle D KD; To, Minh D MD; Rashid, Mamunur M; Rust, Alistair G AG; Keane, Thomas M TM; Delrosario, Reyno R; Jen, Kuang-Yu KY; Gurley, Kay E KE; Kemp, Christopher J CJ; Fredlund, Erik E; Quigley, David A DA; Adams, David J DJ; Balmain, Allan A
Publication Date: 2015-01-22

Variant appearance in text: SI: E40K
PubMed Link: 25363767
Variant Present in the following documents:
  • Main text
  • emss-60537.pdf
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Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Awano, Tomoyuki T; Johnson, Gary S GS; Wade, Claire M CM; Katz, Martin L ML; Johnson, Gayle C GC; Taylor, Jeremy F JF; Perloski, Michele M; Biagi, Tara T; Baranowska, Izabella I; Long, Sam S; March, Philip A PA; Olby, Natasha J NJ; Shelton, G Diane GD; Khan, Shahnawaz S; O'Brien, Dennis P DP; Lindblad-Toh, Kerstin K; Coates, Joan R JR
Publication Date: 2009-02-24

Variant appearance in text: SI: 118G>A; E40K
PubMed Link: 19188595
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lipid-lowering effects of anti-angiopoietin-like 4 antibody recapitulate the lipid phenotype found in angiopoietin-like 4 knockout mice.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Desai, Urvi U; Lee, E-Chiang EC; Chung, Kyu K; Gao, Cuihua C; Gay, Jason J; Key, Billie B; Hansen, Gwenn G; Machajewski, Dennis D; Platt, Kenneth A KA; Sands, Arthur T AT; Schneider, Matthias M; Van Sligtenhorst, Isaac I; Suwanichkul, Adisak A; Vogel, Peter P; Wilganowski, Nat N; Wingert, June J; Zambrowicz, Brian P BP; Landes, Greg G; Powell, David R DR
Publication Date: 2007-07-10

Variant appearance in text: SI: E40K
PubMed Link: 17609370
Variant Present in the following documents:
  • Main text
View BVdb publication page