KCNQ1 c.781G>T ;(p.E261*)

Variant ID: 11-2594076-G-T

NM_000218.2(KCNQ1):c.781G>T;(p.E261*)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.

Biomedicines
Homma, Kazuaki K
Publication Date: 2022-09-12

Variant appearance in text: Kv7.1: E261X
PubMed Link: 36140355
Variant Present in the following documents:
  • Main text
View BVdb publication page


Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.

Disease Models & Mechanisms
Kojima, Takashi T; Wasano, Koichiro K; Takahashi, Satoe S; Homma, Kazuaki K
Publication Date: 2021-11-01

Variant appearance in text: Kv7.1: 781G>T
PubMed Link: 34622280
Variant Present in the following documents:
  • Main text
  • dmm-14-049015-s1.pdf
View BVdb publication page