RUNX2 c.553_554delinsGA ;(p.L185E)

Variant ID: 6-45399729-CT-GA

NM_001024630.3(RUNX2):c.553_554delinsGA;(p.L185E)

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:

Cryo-EM reconstruction of a VPS13 fragment reveals a long groove to channel lipids between membranes.

The Journal Of Cell Biology
Li, PeiQi P; Lees, Joshua Aaron JA; Lusk, C Patrick CP; Reinisch, Karin M KM
Publication Date: 2020-05-04

Variant appearance in text: CCD: L185E
PubMed Link: 32182622
Variant Present in the following documents:
  • Main text
  • JCB_202001161.pdf
View BVdb publication page