CFTR c.1702_1703delinsGC ;(p.L568A)

Variant ID: 7-117230429-TT-GC

NM_000492.3(CFTR):c.1702_1703delinsGC;(p.L568A)

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:

Mutational Analysis of Intracellular Loops Identify Cross Talk with Nucleotide Binding Domains of Yeast ABC Transporter Cdr1p.

Scientific Reports
Shah, Abdul Haseeb AH; Rawal, Manpreet Kaur MK; Dhamgaye, Sanjiveeni S; Komath, Sneha Sudha SS; Saxena, Ajay Kumar AK; Prasad, Rajendra R
Publication Date: 2015-06-08

Variant appearance in text: CFTR: L568A
PubMed Link: 26053667
Variant Present in the following documents:
  • Main text
  • srep11211.pdf
View BVdb publication page