CYB5R3 c.145G>A ;(p.D49N)

Variant ID: 22-43032729-C-T

NM_000398.6(CYB5R3):c.145G>A;(p.D49N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs144467449
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Exome Pool-Seq in neurodevelopmental disorders.

European Journal Of Human Genetics : Ejhg
Popp, Bernt B; Ekici, Arif B AB; Thiel, Christian T CT; Hoyer, Juliane J; Wiesener, Antje A; Kraus, Cornelia C; Reis, André A; Zweier, Christiane C
Publication Date: 2017-12

Variant appearance in text: rs144467449
PubMed Link: 29158550
Variant Present in the following documents:
  • 41431_2017_22_MOESM6_ESM.xlsx, sheet 5
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs144467449
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page