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HP c.589_590delinsGC ;(p.L197A)
Variant ID: 16-72094157-CT-GC
NM_005143.3(
HP
):c.589_590delinsGC;(p.L197A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Engineering a minimal G protein to facilitate crystallisation of G protein-coupled receptors in their active conformation.
Protein Engineering, Design & Selection : Peds
Carpenter, Byron B; Tate, Christopher G CG
Publication Date: 2016-12
Variant appearance in text: HP: L197A
PubMed Link:
27672048
Variant Present in the following documents:
supp_gzw049_PEDS_SIBC.pdf
View BVdb publication page
Kinetic analysis of Arf GAP1 indicates a regulatory role for coatomer.
The Journal Of Biological Chemistry
Luo, Ruibai R; Randazzo, Paul A PA
Publication Date: 2008-08-08
Variant appearance in text: HP: L197A
PubMed Link:
18541532
Variant Present in the following documents:
Main text
View BVdb publication page