F2 c.1378G>A ;(p.D460N)

Variant ID: 11-46750293-G-A

NM_000506.3(F2):c.1378G>A;(p.D460N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structures suggest a mechanism for energy coupling by a family of organic anion transporters.

Plos Biology
Leano, Jonathan B JB; Batarni, Samir S; Eriksen, Jacob J; Juge, Narinobu N; Pak, John E JE; Kimura-Someya, Tomomi T; Robles-Colmenares, Yaneth Y; Moriyama, Yoshinori Y; Stroud, Robert M RM; Edwards, Robert H RH
Publication Date: 2019-05

Variant appearance in text: F2: D460N
PubMed Link: 31083648
Variant Present in the following documents:
  • Main text
  • pbio.3000260.pdf
View BVdb publication page



Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

Orphanet Journal Of Rare Diseases
Lin, Hsiang-Yu HY; Chuang, Chih-Kuang CK; Su, Yi-Ning YN; Chen, Ming-Ren MR; Chiu, Hui-Chin HC; Niu, Dau-Ming DM; Lin, Shuan-Pei SP
Publication Date: 2015-12-01

Variant appearance in text: F2: 1378G>A
PubMed Link: 26627451
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_370.pdf
View BVdb publication page