SEPTIN12 c.589G>A ;(p.D197N)

Variant ID: 16-4833691-C-T

NM_144605.4(SEPTIN12):c.589G>A;(p.D197N)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Chaperone requirements for de novo folding of Saccharomyces cerevisiae septins.

Molecular Biology Of The Cell
Hassell, Daniel D; Denney, Ashley A; Singer, Emily E; Benson, Aleyna A; Roth, Andrew A; Ceglowski, Julia J; Steingesser, Marc M; McMurray, Michael M
Publication Date: 2022-10-01

Variant appearance in text: SEPT12: Asp197Asn
PubMed Link: 35947497
Variant Present in the following documents:
  • Main text
  • mbc-33-ar111.pdf
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: SEPT12: D197N
PubMed Link: 31515488
Variant Present in the following documents:
  • Main text
View BVdb publication page



SEPT14 Mutations and Teratozoospermia: Genetic Effects on Sperm Head Morphology and DNA Integrity.

Journal Of Clinical Medicine
Wang, Ya-Yun YY; Lai, Tsung-Hsuan TH; Chen, Mei-Feng MF; Lee, Hui-Ling HL; Kuo, Pao-Lin PL; Lin, Ying-Hung YH
Publication Date: 2019-08-23

Variant appearance in text: SEPT12: D197N
PubMed Link: 31450874
Variant Present in the following documents:
  • Main text
  • jcm-08-01297.pdf
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Testis-Specific SEPT12 Expression Affects SUN Protein Localization and is Involved in Mammalian Spermiogenesis.

International Journal Of Molecular Sciences
Yeh, Chung-Hsin CH; Wang, Ya-Yun YY; Wee, Shi-Kae SK; Chen, Mei-Feng MF; Chiang, Han-Sun HS; Kuo, Pao-Lin PL; Lin, Ying-Hung YH
Publication Date: 2019-03-07

Variant appearance in text: SEPT12: D197N
PubMed Link: 30866452
Variant Present in the following documents:
  • Main text
  • ijms-20-01163.pdf
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Association of single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene with spermatogenesis failure in male idiopathic infertility in Northeast China.

The Journal Of International Medical Research
Geng, Dongfeng D; Yang, Xiao X; Zhang, Hongguo H; Liu, Xiaojun X; Yu, Yang Y; Jiang, Yuting Y; Liu, Ruizhi R; Zhang, Guirong G
Publication Date: 2019-02

Variant appearance in text: SEPT12: 589G>A
PubMed Link: 30488758
Variant Present in the following documents:
  • Main text
  • 10.1177_0300060518811770.pdf
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Human male infertility and its genetic causes.

Reproductive Medicine And Biology
Miyamoto, Toshinobu T; Minase, Gaku G; Shin, Takeshi T; Ueda, Hiroto H; Okada, Hiroshi H; Sengoku, Kazuo K
Publication Date: 2017-04

Variant appearance in text: SEPT12: 589G>A
PubMed Link: 29259455
Variant Present in the following documents:
  • Main text
  • RMB2-16-081.pdf
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SEPT12 phosphorylation results in loss of the septin ring/sperm annulus, defective sperm motility and poor male fertility.

Plos Genetics
Shen, Yi-Ru YR; Wang, Han-Yu HY; Kuo, Yung-Che YC; Shih, Shih-Chuan SC; Hsu, Chun-Hua CH; Chen, Yet-Ran YR; Wu, Shang-Rung SR; Wang, Chia-Yih CY; Kuo, Pao-Lin PL
Publication Date: 2017-03

Variant appearance in text: SEPT12: D197N
PubMed Link: 28346465
Variant Present in the following documents:
  • Main text
View BVdb publication page



Septin Mutations in Human Cancers.

Frontiers In Cell And Developmental Biology
Angelis, Dimitrios D; Spiliotis, Elias T ET
Publication Date: 2016

Variant appearance in text: SEPT12: D197N
PubMed Link: 27882315
Variant Present in the following documents:
  • Main text
View BVdb publication page



SEPT12-NDC1 Complexes Are Required for Mammalian Spermiogenesis.

International Journal Of Molecular Sciences
Lai, Tsung-Hsuan TH; Wu, Ying-Yu YY; Wang, Ya-Yun YY; Chen, Mei-Feng MF; Wang, Pei P; Chen, Tsung-Ming TM; Wu, Yi-No YN; Chiang, Han-Sun HS; Kuo, Pao-Lin PL; Lin, Ying-Hung YH
Publication Date: 2016-11-16

Variant appearance in text: SEPT12: D197N
PubMed Link: 27854341
Variant Present in the following documents:
  • Main text
  • ijms-17-01911.pdf
View BVdb publication page



SEPT12/SPAG4/LAMINB1 complexes are required for maintaining the integrity of the nuclear envelope in postmeiotic male germ cells.

Plos One
Yeh, Chung-Hsin CH; Kuo, Pao-Lin PL; Wang, Ya-Yun YY; Wu, Ying-Yu YY; Chen, Mei-Feng MF; Lin, Ding-Yen DY; Lai, Tsung-Hsuan TH; Chiang, Han-Sun HS; Lin, Ying-Hung YH
Publication Date: 2015

Variant appearance in text: SEPT12: D197N
PubMed Link: 25775403
Variant Present in the following documents:
  • Main text
  • pone.0120722.pdf
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Relationship between absence of annulus and asthenozoospermia in Iranian men.

Journal Of Assisted Reproduction And Genetics
Hosseinifar, Hani H; Shafipour, Maryam M; Modarresi, Tahereh T; Azad, Mahnaz M; Sadighi Gilani, Mohammad Ali MA; Shahhosseini, Maryam M; Sabbaghian, Marjan M
Publication Date: 2014-12

Variant appearance in text: SEPT12: D197N
PubMed Link: 25301271
Variant Present in the following documents:
  • Main text
View BVdb publication page



Septin functions in organ system physiology and pathology.

Biological Chemistry
Dolat, Lee L; Hu, Qicong Q; Spiliotis, Elias T ET
Publication Date: 2014-02

Variant appearance in text: SEPT12: D197N
PubMed Link: 24114910
Variant Present in the following documents:
  • Main text
View BVdb publication page