A2ML1 c.3392C>T ;(p.T1131M)

Variant ID: 12-9013783-C-T

NM_144670.4(A2ML1):c.3392C>T;(p.T1131M)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Human PZP and common marmoset A2ML1 as pregnancy related proteins.

Scientific Reports
Kashiwagi, Hirofumi H; Ishimoto, Hitoshi H; Izumi, Sun-Ichiro SI; Seki, Toshiro T; Kinami, Rihito R; Otomo, Asako A; Takahashi, Kazumi K; Kametani, Fuyuki F; Hirayama, Noriaki N; Sasaki, Erika E; Shiina, Takashi T; Sakabe, Kou K; Mikami, Mikio M; Kametani, Yoshie Y
Publication Date: 2020-03-20

Variant appearance in text: rs7959680
PubMed Link: 32198464
Variant Present in the following documents:
  • 41598_2020_61714_MOESM1_ESM.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: rs7959680
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, 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: A2ML1: T1131M; rs7959680
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: A2ML1: T1131M; rs7959680
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page