ADM c.150C>G ;(p.S50R)

Variant ID: 11-10327547-C-G

NM_001124.1(ADM):c.150C>G;(p.S50R)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Room-temperature serial synchrotron crystallography of the human phosphatase PTP1B.

Acta Crystallographica. Section F, Structural Biology Communications
Sharma, Shivani S; Ebrahim, Ali A; Keedy, Daniel A DA
Publication Date: 2023-01-01

Variant appearance in text: rs5005
PubMed Link: 36598353
Variant Present in the following documents:
  • Main text
View BVdb publication page



The melanocortin pathway and energy homeostasis: From discovery to obesity therapy.

Molecular Metabolism
Yeo, Giles S H GSH; Chao, Daniela Herrera Moro DHM; Siegert, Anna-Maria AM; Koerperich, Zoe M ZM; Ericson, Mark D MD; Simonds, Stephanie E SE; Larson, Courtney M CM; Luquet, Serge S; Clarke, Iain I; Sharma, Shubh S; Clément, Karine K; Cowley, Michael A MA; Haskell-Luevano, Carrie C; Van Der Ploeg, Lex L; Adan, Roger A H RAH
Publication Date: 2021-06

Variant appearance in text: rs5005
PubMed Link: 33684608
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: ADM: S50R; rs5005
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ADM: S50R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ADM: S50R; rs5005
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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: rs5005
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Genetic determinants of mycophenolate-related anemia and leukopenia after transplantation.

Transplantation
Jacobson, Pamala A PA; Schladt, David D; Oetting, William S WS; Leduc, Robert R; Guan, Weihau W; Matas, Arthur J AJ; Lamba, Vishal V; Mannon, Roslyn B RB; Julian, Bruce A BA; Israni, Ajay A; ,
Publication Date: 2011-02-15

Variant appearance in text: rs5005
PubMed Link: 21107304
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: ADM: S50R; rs5005
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 3
View BVdb publication page



Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.

Human Genomics
Savas, Sevtap S; Schmidt, Steffen S; Jarjanazi, Hamdi H; Ozcelik, Hilmi H
Publication Date: 2006-03

Variant appearance in text: ADM: S50R; rs5005
PubMed Link: 16595073
Variant Present in the following documents:
  • Main text
  • 1479-7364-2-5-287.pdf
View BVdb publication page