OR12D2 c.167T>A ;(p.L56H)

Variant ID: 6-29364643-T-A

NM_013936.3(OR12D2):c.167T>A;(p.L56H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integration of Transcriptome and Exome Genotyping Identifies Significant Variants with Autism Spectrum Disorder.

Pharmaceuticals (Basel, Switzerland)
Almandil, Noor B NB; AlSulaiman, Abdulla A; Aldakeel, Sumayh A SA; Alkuroud, Deem N DN; Aljofi, Halah Egal HE; Alzahrani, Safah S; Al-Mana, Aishah A; Alfuraih, Asma A AA; Alabdali, Majed M; Alkhamis, Fahd A FA; AbdulAzeez, Sayed S; Borgio, J Francis JF
Publication Date: 2022-01-27

Variant appearance in text: rs4987411
PubMed Link: 35215271
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-15-00158.pdf
View BVdb publication page



The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology
Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A
Publication Date: 2021-02-05

Variant appearance in text: N/A
PubMed Link: 33546694
Variant Present in the following documents:
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: rs4987411
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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: rs4987411
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page