SMOC2 c.464-2681G>C

Variant ID: 6-168941624-G-C

NM_001166412.1(SMOC2):c.464-2681G>C

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs13208776
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Influence of Trace Elements on Neurodegenerative Diseases of The Eye-The Glaucoma Model.

International Journal Of Molecular Sciences
Kamińska, Agnieszka A; Romano, Giovanni Luca GL; Rejdak, Robert R; Zweifel, Sandrine S; Fiedorowicz, Michal M; Rejdak, Magdalena M; Bajka, Anahita A; Amato, Rosario R; Bucolo, Claudio C; Avitabile, Teresio T; Drago, Filippo F; Toro, Mario Damiano MD
Publication Date: 2021-04-21

Variant appearance in text: rs13208776
PubMed Link: 33919241
Variant Present in the following documents:
  • Main text
View BVdb publication page



Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma.

The Application Of Clinical Genetics
Kondkar, Altaf A AA
Publication Date: 2021

Variant appearance in text: rs13208776
PubMed Link: 33727852
Variant Present in the following documents:
  • Main text
  • tacg-14-89.pdf
View BVdb publication page



Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations.

Genes
Zukerman, Ryan R; Harris, Alon A; Vercellin, Alice Verticchio AV; Siesky, Brent B; Pasquale, Louis R LR; Ciulla, Thomas A TA
Publication Date: 2020-12-31

Variant appearance in text: rs13208776
PubMed Link: 33396423
Variant Present in the following documents:
  • Main text
  • genes-12-00055.pdf
View BVdb publication page



Secreted modular calcium-binding proteins in pathophysiological processes and embryonic development.

Chinese Medical Journal
Gao, Qiang Q; Mok, Hsiao-Pei HP; Zhuang, Jian J
Publication Date: 2019-10-20

Variant appearance in text: rs13208776
PubMed Link: 31613820
Variant Present in the following documents:
  • cm9-132-2476.pdf
View BVdb publication page



The SPARC-related modular calcium binding protein 2 (SMOC2) gene polymorphism in primary glaucoma: a case-control study.

Clinical Ophthalmology (Auckland, N.Z.)
Al-Dabbagh, Najwa N; Al-Shahrani, Hamoud H; Al-Dohayan, Nourah N; Mustafa, Md M; Arfin, Misbahul M; Al-Asmari, Abdulrahman K AK
Publication Date: 2017

Variant appearance in text: rs13208776
PubMed Link: 28356709
Variant Present in the following documents:
  • Main text
  • opth-11-549.pdf
View BVdb publication page



Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci.

Frontiers In Genetics
Shen, Changbing C; Gao, Jing J; Sheng, Yujun Y; Dou, Jinfa J; Zhou, Fusheng F; Zheng, Xiaodong X; Ko, Randy R; Tang, Xianfa X; Zhu, Caihong C; Yin, Xianyong X; Sun, Liangdan L; Cui, Yong Y; Zhang, Xuejun X
Publication Date: 2016

Variant appearance in text: rs13208776
PubMed Link: 26870082
Variant Present in the following documents:
  • Main text
  • fgene-07-00003.pdf
View BVdb publication page



Vitiligo--part 1.

Anais Brasileiros De Dermatologia
Tarlé, Roberto Gomes RG; Nascimento, Liliane Machado do LM; Mira, Marcelo Távora MT; Castro, Caio Cesar Silva de CC
Publication Date: 2014

Variant appearance in text: rs13208776
PubMed Link: 24937821
Variant Present in the following documents:
  • Main text
  • abd-89-03-0461.pdf
View BVdb publication page



Common variants in FOXP1 are associated with generalized vitiligo.

Nature Genetics
Jin, Ying Y; Birlea, Stanca A SA; Fain, Pamela R PR; Mailloux, Christina M CM; Riccardi, Sheri L SL; Gowan, Katherine K; Holland, Paulene J PJ; Bennett, Dorothy C DC; Wallace, Margaret R MR; McCormack, Wayne T WT; Kemp, E Helen EH; Gawkrodger, David J DJ; Weetman, Anthony P AP; Picardo, Mauro M; Leone, Giovanni G; Taïeb, Alain A; Jouary, Thomas T; Ezzedine, Khaled K; van Geel, Nanny N; Lambert, Jo J; Overbeck, Andreas A; Spritz, Richard A RA
Publication Date: 2010-07

Variant appearance in text: rs13208776
PubMed Link: 20526340
Variant Present in the following documents:
  • Main text
  • nihms204740.pdf
View BVdb publication page



Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.

The Journal Of Investigative Dermatology
Birlea, Stanca A SA; Gowan, Katherine K; Fain, Pamela R PR; Spritz, Richard A RA
Publication Date: 2010-03

Variant appearance in text: rs13208776
PubMed Link: 19890347
Variant Present in the following documents:
  • Main text
View BVdb publication page