SMN1 c.259_260delinsTG ;(p.A87C)

Variant ID: 5-70237321-GC-TG

NM_000344.3(SMN1):c.259_260delinsTG;(p.A87C)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

IL-17A Recruits Rab35 to IL-17R to Mediate PKCĪ±-Dependent Stress Fiber Formation and Airway Smooth Muscle Contractility.

Journal Of Immunology (Baltimore, Md. : 1950)
Bulek, Katarzyna K; Chen, Xing X; Parron, Vandy V; Sundaram, Aparna A; Herjan, Tomasz T; Ouyang, Suidong S; Liu, Caini C; Majors, Alana A; Zepp, Jarod J; Gao, Ji J; Dongre, Ashok A; Bodaszewska-Lubas, Malgorzata M; Echard, Arnaud A; Aronica, Mark M; Carman, Julie J; Garantziotis, Stavros S; Sheppard, Dean D; Li, Xiaoxia X
Publication Date: 2019-03-01

Variant appearance in text: SMA: A87C
PubMed Link: 30683702
Variant Present in the following documents:
  • Main text
View BVdb publication page