NSF c.2114T>G ;(p.I705R)

Variant ID: 17-44828939-T-G

NM_006178.3(NSF):c.2114T>G;(p.I705R)

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:

Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.

International Journal Of Molecular Sciences
Schieferdecker, Anne A; Wendler, Petra P
Publication Date: 2019-08-01

Variant appearance in text: NSF: 2114T>G
PubMed Link: 31374812
Variant Present in the following documents:
  • Main text
  • ijms-20-03756.pdf
View BVdb publication page