SEMA7A c.507C>A ;(p.Y169*)

Variant ID: 15-74709975-G-T

NM_003612.3(SEMA7A):c.507C>A;(p.Y169*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Sema7A protects against high-fat diet-induced obesity and hepatic steatosis by regulating adipo/lipogenesis.

Molecular Metabolism
Lu, Qiongyu Q; Liu, Ziting Z; Zhao, Luyao L; Xu, Linru L; Liu, Chu C; Li, Ling L; Cao, Yiren Y; Li, Fengchan F; Wu, Lili L; Wang, Lei L; Chen, Ting T; You, Tao T; Ren, Lijie L; Wang, Guixue G; Tang, Chaojun C; Zhu, Li L
Publication Date: 2023-02-24

Variant appearance in text: rs2075589
PubMed Link: 36842496
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment.

Journal Of Speech, Language, And Hearing Research : Jslhr
Andres, Erin M EM; Earnest, Kathleen Kelsey KK; Smith, Shelley D SD; Rice, Mabel L ML; Raza, Muhammad Hashim MH
Publication Date: 2020-12-14

Variant appearance in text: rs2075589
PubMed Link: 33186502
Variant Present in the following documents:
  • Main text
  • JSLHR-63-4046.pdf
View BVdb publication page



Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment.

Journal Of Speech, Language, And Hearing Research : Jslhr
Andres, Erin M EM; Earnest, Kathleen Kelsey KK; Smith, Shelley D SD; Rice, Mabel L ML; Raza, Muhammad Hashim MH
Publication Date: 2020-12-14

Variant appearance in text: rs2075589
PubMed Link: 33186502
Variant Present in the following documents:
  • Main text
  • JSLHR-63-4046.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2075589
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: SEMA7A: 507C>A; Tyr169*
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page



CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation.

Nature Genetics
Manjarrez-Orduño, Nataly N; Marasco, Emiliano E; Chung, Sharon A SA; Katz, Matthew S MS; Kiridly, Jenna F JF; Simpfendorfer, Kim R KR; Freudenberg, Jan J; Ballard, David H DH; Nashi, Emil E; Hopkins, Thomas J TJ; Cunninghame Graham, Deborah S DS; Lee, Annette T AT; Coenen, Marieke J H MJ; Franke, Barbara B; Swinkels, Dorine W DW; Graham, Robert R RR; Kimberly, Robert P RP; Gaffney, Patrick M PM; Vyse, Timothy J TJ; Behrens, Timothy W TW; Criswell, Lindsey A LA; Diamond, Betty B; Gregersen, Peter K PK
Publication Date: 2012-11

Variant appearance in text: rs2075589
PubMed Link: 23042117
Variant Present in the following documents:
  • NIHMS408117-supplement-1.pdf
View BVdb publication page