PRF1 c.1034C>T ;(p.P345L)

Variant ID: 10-72358443-G-A

NM_001083116.1(PRF1):c.1034C>T;(p.P345L)

This variant was identified in 5 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PRF1: 1034C>T; Pro345Leu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page


Predicting disease-causing variant combinations.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Papadimitriou, Sofia S; Gazzo, Andrea A; Versbraegen, Nassim N; Nachtegael, Charlotte C; Aerts, Jan J; Moreau, Yves Y; Van Dooren, Sonia S; Nowé, Ann A; Smits, Guillaume G; Lenaerts, Tom T
Publication Date: 2019-06-11

Variant appearance in text: PRF1: 1034C>T
PubMed Link: 31127050
Variant Present in the following documents:
  • pnas.1815601116.sapp.pdf
View BVdb publication page


The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09

Variant appearance in text: PRF1: 1034C>T; Pro345Leu; rs28933374
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
View BVdb publication page


GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PRF1: P345L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page