CFTR c.4012G>A ;(p.V1338I)

Variant ID: 7-117304790-G-A

NM_000492.3(CFTR):c.4012G>A;(p.V1338I)

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:

A mutation in intracellular loop 4 affects the drug-efflux activity of the yeast multidrug resistance ABC transporter Pdr5p.

Plos One
Guo, Xiaoxian X; Li, Jingkai J; Wang, Tanjun T; Liu, Zhenhua Z; Chen, Xin X; Li, Yudong Y; Gu, Zhenglong Z; Mao, Xuming X; Guan, Wenjun W; Li, Yongquan Y
Publication Date: 2012

Variant appearance in text: CFTR: V1338I
PubMed Link: 22238618
Variant Present in the following documents:
  • Main text
  • pone.0029520.pdf
View BVdb publication page