ABCA1 c.640_642delinsGAG ;(p.L214E)

Variant ID: 9-107620881-AAG-CTC

NM_005502.3(ABCA1):c.640_642delinsGAG;(p.L214E)

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:

Mechanism of Lamellar Body Formation by Lung Surfactant Protein B.

Molecular Cell
Sever, Navdar N; Miličić, Goran G; Bodnar, Nicholas O NO; Wu, Xudong X; Rapoport, Tom A TA
Publication Date: 2021-01-07

Variant appearance in text: ABCA1: L214E
PubMed Link: 33242393
Variant Present in the following documents:
  • Main text
View BVdb publication page