CKAP5 c.1330C>A ;(p.L444I)

Variant ID: 11-46819363-G-T

NM_001008938.3(CKAP5):c.1330C>A;(p.L444I)

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:

Human liver cell trafficking mutants: characterization and whole exome sequencing.

Plos One
Yuan, Fei F; Snapp, Erik L EL; Novikoff, Phyllis M PM; Suadicani, Sylvia O SO; Spray, David C DC; Potvin, Barry B; Wolkoff, Allan W AW; Stanley, Pamela P
Publication Date: 2014

Variant appearance in text: CKAP5: L444I
PubMed Link: 24466322
Variant Present in the following documents:
  • Main text
  • pone.0087043.pdf
View BVdb publication page