SERPINC1 c.1218+1187A>C

Variant ID: 1-173875401-T-G

NM_000488.3(SERPINC1):c.1218+1187A>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.

Jci Insight
Bravo-Pérez, Carlos C; Toderici, Mara M; Chambers, Joseph E JE; Martínez-Menárguez, José A JA; Garrido-Rodriguez, Pedro P; Pérez-Sanchez, Horacio H; de la Morena-Barrio, Belén B; Padilla, José J; Miñano, Antonia A; Cifuentes-Riquelme, Rosa R; Vicente, Vicente V; Lozano, Maria L ML; Marciniak, Stefan J SJ; de la Morena-Barrio, Maria Eugenia ME; Corral, Javier J
Publication Date: 2022-10-10

Variant appearance in text: rs2227612
PubMed Link: 36214221
Variant Present in the following documents:
  • jciinsight-7-161430-s136.pdf
View BVdb publication page



Age and Origin of the Founder Antithrombin Budapest 3 (p.Leu131Phe) Mutation; Its High Prevalence in the Roma Population and Its Association With Cardiovascular Diseases.

Frontiers In Cardiovascular Medicine
Bereczky, Zsuzsanna Z; Gindele, Réka R; Fiatal, Szilvia S; Speker, Marianna M; Miklós, Tünde T; Balogh, László L; Mezei, Zoltán Z; Szabó, Zsuzsanna Z; Ádány, Róza R
Publication Date: 2020

Variant appearance in text: rs2227612
PubMed Link: 33614741
Variant Present in the following documents:
  • Main text
  • fcvm-07-617711.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2227612
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Polymorphisms of F2, PROC, PROZ, and F13A1 Genes are Associated With Recurrent Spontaneous Abortion in Chinese Han Women.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis
Xu, Zuying Z; Zhang, Ying Y; Liu, Wei W; Liu, Yunyun Y; Su, Yezhou Y; Xing, Qiong Q; He, Xiaojin X; Wei, Zhaolian Z; Cao, Yunxia Y; Xiang, Huifen H
Publication Date: 2018-09

Variant appearance in text: rs2227612
PubMed Link: 29363996
Variant Present in the following documents:
  • Main text
  • 10.1177_1076029617750487.pdf
View BVdb publication page