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 -