AKAP6 c.5543T>A ;(p.L1848H)

Variant ID: 14-33292562-T-A

NM_004274.4(AKAP6):c.5543T>A;(p.L1848H)

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:

The structure of the ankyrin-binding site of beta-spectrin reveals how tandem spectrin-repeats generate unique ligand-binding properties.

Blood
Stabach, Paul R PR; Simonović, Ivana I; Ranieri, Miranda A MA; Aboodi, Michael S MS; Steitz, Thomas A TA; Simonović, Miljan M; Morrow, Jon S JS
Publication Date: 2009-05-28

Variant appearance in text: mAKAP: L1848H
PubMed Link: 19168783
Variant Present in the following documents:
  • Main text
View BVdb publication page