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Variant ID: 13-42874809-GTT-TGG
NM_016248.3(
AKAP11
):c.1927_1929delinsTGG;(p.Val643Trp)
This variant was identified in 1 publication
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A small novel A-kinase anchoring protein (AKAP) that localizes specifically protein kinase A-regulatory subunit I (PKA-RI) to the plasma membrane.
The Journal Of Biological Chemistry
PP Burgers, Y Ma, L Margarucci, M Mackey, MA van der Heyden, M Ellisman, A Scholten, SS Taylor, AJ Heck
Publication Date: 2012-12-21
Variant appearance in text: AKAP220: V643W
PubMed Link:
23115245
Variant Present in the following documents:
Main text
View BVdb publication page
Alternative transcript annotations:
Transcript
cDNA
Protein
Consequence
Exon
Intron
ENST00000025301.2
c.1927_1929delinsTGG
p.Val643Trp
missense_variant
8/13
-
NM_016248.4
c.1927_1929delinsTGG
p.Val643Trp
missense_variant
8/13
-