PNPLA3 c.295T>A ;(p.C99S)

Variant ID: 22-44322922-T-A

NM_025225.2(PNPLA3):c.295T>A;(p.C99S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs2076213
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs2076213
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.

Molecular Genetics & Genomic Medicine
Edelman, Deborah D; Kalia, Harmit H; Delio, Maria M; Alani, Mustafa M; Krishnamurthy, Karthik K; Abd, Mortadha M; Auton, Adam A; Wang, Tao T; Wolkoff, Allan W AW; Morrow, Bernice E BE
Publication Date: 2015-11

Variant appearance in text: rs2076213
PubMed Link: 26740948
Variant Present in the following documents:
  • Main text
  • MGG3-3-558.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: rs2076213
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs2076213
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Distribution and effects of nonsense polymorphisms in human genes.

Plos One
Yamaguchi-Kabata, Yumi Y; Shimada, Makoto K MK; Hayakawa, Yosuke Y; Minoshima, Shinsei S; Chakraborty, Ranajit R; Gojobori, Takashi T; Imanishi, Tadashi T
Publication Date: 2008

Variant appearance in text: rs2076213
PubMed Link: 18852891
Variant Present in the following documents:
View BVdb publication page