FLNB c.604A>G ;(p.M202V)

Variant ID: 3-58064506-A-G

NM_001457.3(FLNB):c.604A>G;(p.M202V)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.

Molecules (Basel, Switzerland)
S, Udhaya Kumar UK; Sankar, Srivarshini S; Younes, Salma S; D, Thirumal Kumar TK; Ahmad, Muneera Naseer MN; Okashah, Sarah Samer SS; Kamaraj, Balu B; Al-Subaie, Abeer Mohammed AM; C, George Priya Doss GPD; Zayed, Hatem H
Publication Date: 2020-11-26

Variant appearance in text: FLNB: 604A>G; M202V
PubMed Link: 33255942
Variant Present in the following documents:
  • Main text
  • molecules-25-05543.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: FLNB: M202V
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: FLNB: 604A>G; Met202Val
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.

American Journal Of Medical Genetics. Part A
Rehder, Helga H; Laccone, Franco F; Kircher, Susanne G SG; Schild, Ralf L RL; Rapp, Christiane C; Bald, Rainer R; Schulze, Bernt B; Behunova, Jana J; Neesen, Juergen J; Schoner, Katharina K
Publication Date: 2018-07

Variant appearance in text: FLNB: 604A>G
PubMed Link: 29797497
Variant Present in the following documents:
  • Main text
  • AJMG-176-1559.pdf
View BVdb publication page



Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

Bmc Medical Genetics
Girisha, Katta Mohan KM; Bidchol, Abdul Mueed AM; Graul-Neumann, Luitgard L; Gupta, Ashish A; Hehr, Ute U; Lessel, Davor D; Nader, Sean S; Shah, Hitesh H; Wickert, Julia J; Kutsche, Kerstin K
Publication Date: 2016-04-06

Variant appearance in text: FLNB: Met202Val
PubMed Link: 27048506
Variant Present in the following documents:
  • Main text
  • 12881_2016_Article_290.pdf
View BVdb publication page



F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain.

American Journal Of Physiology. Cell Physiology
Zhao, Yongtong Y; Shapiro, Sandor S SS; Eto, Masumi M
Publication Date: 2016-01-01

Variant appearance in text: FLNB: M202V
PubMed Link: 26491051
Variant Present in the following documents:
  • Main text
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: FLNB: M202V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page