TTN c.637A>T ;(p.I213F)

Variant ID: 2-179664584-T-A

NM_001267550.1(TTN):c.637A>T;(p.I213F)

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:

Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Tominaga, Aya A; Cai, Tetsuo T; Takagi-Niidome, Shizuka S; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2016-01-27

Variant appearance in text: TMD: I213F
PubMed Link: 26818522
Variant Present in the following documents:
  • Main text
View BVdb publication page