C2 c.1023G>A ;(p.A341=)

Variant ID: 6-31905130-G-A

NM_000063.4(C2):c.1023G>A;(p.A341=)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Characteristics of circulating small noncoding RNAs in plasma and serum during human aging.

Aging Medicine (Milton (N.S.W))
Xiao, Ping P; Shi, Zhangyue Z; Liu, Chenang C; Hagen, Darren E DE
Publication Date: 2023-03

Variant appearance in text: rs1042663
PubMed Link: 36911092
Variant Present in the following documents:
  • AGM2-6-35-s002.xlsx, sheet 3
View BVdb publication page



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: rs1042663
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Biomarkers as Predictive Factors of Anti-VEGF Response.

Biomedicines
Bobadilla, Miriam M; Pariente, Ana A; Oca, Ana I AI; Peláez, Rafael R; Pérez-Sala, Álvaro Á; Larráyoz, Ignacio M IM
Publication Date: 2022-04-26

Variant appearance in text: rs1042663
PubMed Link: 35625740
Variant Present in the following documents:
  • biomedicines-10-01003.pdf
View BVdb publication page



A genome-wide association study of serum proteins reveals shared loci with common diseases.

Nature Communications
Gudjonsson, Alexander A; Gudmundsdottir, Valborg V; Axelsson, Gisli T GT; Gudmundsson, Elias F EF; Jonsson, Brynjolfur G BG; Launer, Lenore J LJ; Lamb, John R JR; Jennings, Lori L LL; Aspelund, Thor T; Emilsson, Valur V; Gudnason, Vilmundur V
Publication Date: 2022-01-25

Variant appearance in text: rs1042663
PubMed Link: 35078996
Variant Present in the following documents:
  • 41467_2021_27850_MOESM1_ESM.pdf
View BVdb publication page



A genome-wide association study of serum proteins reveals shared loci with common diseases.

Nature Communications
Gudjonsson, Alexander A; Gudmundsdottir, Valborg V; Axelsson, Gisli T GT; Gudmundsson, Elias F EF; Jonsson, Brynjolfur G BG; Launer, Lenore J LJ; Lamb, John R JR; Jennings, Lori L LL; Aspelund, Thor T; Emilsson, Valur V; Gudnason, Vilmundur V
Publication Date: 2022-01-25

Variant appearance in text: rs1042663
PubMed Link: 35078996
Variant Present in the following documents:
  • 41467_2021_27850_MOESM1_ESM.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs1042663
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs1042663
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genotype distribution-based inference of collective effects in genome-wide association studies: insights to age-related macular degeneration disease mechanism.

Bmc Genomics
Woo, Hyung Jun HJ; Yu, Chenggang C; Kumar, Kamal K; Gold, Bert B; Reifman, Jaques J
Publication Date: 2016-08-30

Variant appearance in text: rs1042663
PubMed Link: 27576376
Variant Present in the following documents:
  • 12864_2016_Article_2871.pdf
View BVdb publication page



Risk factors and biomarkers of age-related macular degeneration.

Progress In Retinal And Eye Research
Lambert, Nathan G NG; ElShelmani, Hanan H; Singh, Malkit K MK; Mansergh, Fiona C FC; Wride, Michael A MA; Padilla, Maximilian M; Keegan, David D; Hogg, Ruth E RE; Ambati, Balamurali K BK
Publication Date: 2016-09

Variant appearance in text: rs1042663
PubMed Link: 27156982
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015

Variant appearance in text: rs1042663
PubMed Link: 26496393
Variant Present in the following documents:
  • pone.0140684.s004.xlsx, sheet 2
  • pone.0140684.s004.xlsx, sheet 5
  • pone.0140684.s004.xlsx, sheet 4
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs1042663
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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: rs1042663
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Efficient haplotype block recognition of very long and dense genetic sequences.

Bmc Bioinformatics
Taliun, Daniel D; Gamper, Johann J; Pattaro, Cristian C
Publication Date: 2014-01-14

Variant appearance in text: rs1042663
PubMed Link: 24423111
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta‐analysis of genetic variants associated with human exceptional longevity.

Aging
Sebastiani, Paola P; Bae, Harold H; Sun, Fangui X FX; Andersen, Stacy L SL; Daw, E Warwick EW; Malovini, Alberto A; Kojima, Toshio T; Hirose, Nobuyoshi N; Schupf, Nicole N; Puca, Annibale A; Perls, Thomas T TT
Publication Date: 2013-09

Variant appearance in text: rs1042663
PubMed Link: 24244950
Variant Present in the following documents:
  • Main text
  • aging-05-653.pdf
View BVdb publication page



DNA sequence variants in PPARGC1A, a gene encoding a coactivator of the ω-3 LCPUFA sensing PPAR-RXR transcription complex, are associated with NV AMD and AMD-associated loci in genes of complement and VEGF signaling pathways.

Plos One
SanGiovanni, John Paul JP; Chen, Jing J; Sapieha, Przemyslaw P; Aderman, Christopher M CM; Stahl, Andreas A; Clemons, Traci E TE; Chew, Emily Y EY; Smith, Lois E H LE
Publication Date: 2013

Variant appearance in text: rs1042663
PubMed Link: 23335958
Variant Present in the following documents:
  • Main text
  • pone.0053155.pdf
View BVdb publication page



The major histocompatibility complex conserved extended haplotype 8.1 in AIDS-related non-Hodgkin lymphoma.

Journal Of Acquired Immune Deficiency Syndromes (1999)
Aissani, Brahim B; Ogwaro, Kisani M KM; Shrestha, Sadeep S; Tang, Jianming J; Breen, Elizabeth C EC; Wong, Hui-Lee HL; Jacobson, Lisa P LP; Rabkin, Charles S CS; Ambinder, Richard F RF; Martinez-Maza, Otoniel O; Kaslow, Richard A RA
Publication Date: 2009-10-01

Variant appearance in text: rs1042663
PubMed Link: 19654554
Variant Present in the following documents:
  • Main text
View BVdb publication page



C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.

Plos One
Jakobsdottir, Johanna J; Conley, Yvette P YP; Weeks, Daniel E DE; Ferrell, Robert E RE; Gorin, Michael B MB
Publication Date: 2008-05-21

Variant appearance in text: rs1042663
PubMed Link: 18493315
Variant Present in the following documents:
  • pone.0002199.s005.pdf
View BVdb publication page