MC1R c.271A>G ;(p.N91D)

Variant ID: 16-89985937-A-G

NM_002386.3(MC1R):c.271A>G;(p.N91D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: MC1R: N91D
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

Endocrinology
Tan, Karen K; Pogozheva, Irina D ID; Yeo, Giles S H GS; Hadaschik, Dirk D; Keogh, Julia M JM; Haskell-Leuvano, Carrie C; O'Rahilly, Stephen S; Mosberg, Henry I HI; Farooqi, I Sadaf IS
Publication Date: 2009-01

Variant appearance in text: MC1R: N91D
PubMed Link: 18801902
Variant Present in the following documents:
  • Main text
View BVdb publication page