FOXL2 c.251T>G ;(p.I84S)

Variant ID: 3-138665314-A-C

NM_023067.3(FOXL2):c.251T>G;(p.I84S)

This variant was identified in 7 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: FOXL2: 251T>G; Ile84Ser
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page


FOXL2 directs DNA double-strand break repair pathways by differentially interacting with Ku.

Nature Communications
Jin, Hanyong H; Lee, Boeun B; Luo, Yongyang Y; Choi, Yuri Y; Choi, Eui-Hwan EH; Jin, Hong H; Kim, Kee-Beom KB; Seo, Sang Beom SB; Kim, Yong-Hak YH; Lee, Hyung Ho HH; Kim, Keun Pil KP; Lee, Kangseok K; Bae, Jeehyeon J
Publication Date: 2020-04-24

Variant appearance in text: FOXL2: I84S
PubMed Link: 32332759
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_15748.pdf
  • 41467_2020_15748_MOESM1_ESM.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: BPES: I84S; rs28937884
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.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: FOXL2: I84S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page


Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteins.

The Journal Of Reproduction And Development
Kim, Jae-Hong JH; Bae, Jeehyeon J
Publication Date: 2014-03-07

Variant appearance in text: FOXL2: I84S
PubMed Link: 24240106
Variant Present in the following documents:
  • Main text
  • jrd-60-014.pdf
View BVdb publication page


Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: FOXL2: I84S; rs28937884
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 3
View BVdb publication page


FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Molecular Vision
Wang, Juan J; Liu, Jinling J; Zhang, Qingjiong Q
Publication Date: 2007-01-26

Variant appearance in text: rs28937884
PubMed Link: 17277738
Variant Present in the following documents:
  • Main text
  • mv-v13-108.pdf
View BVdb publication page