NF1 c.1450_1451delinsGC ;(p.L484A)

Variant ID: 17-29541526-CT-GC

NM_001042492.2(NF1):c.1450_1451delinsGC;(p.L484A)

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:

GAP1 family members constitute bifunctional Ras and Rap GTPase-activating proteins.

The Journal Of Biological Chemistry
Kupzig, Sabine S; Deaconescu, Delia D; Bouyoucef, Dalila D; Walker, Simon A SA; Liu, Qing Q; Polte, Christian L CL; Daumke, Oliver O; Ishizaki, Toshimasa T; Lockyer, Peter J PJ; Wittinghofer, Alfred A; Cullen, Peter J PJ
Publication Date: 2006-04-14

Variant appearance in text: NF1: L484A
PubMed Link: 16431904
Variant Present in the following documents:
  • Main text
View BVdb publication page