Bibliome.ai browser hg19
Search
About
Stats
FAQ
TTN c.1811A>C ;(p.E604A)
Variant ID: 2-179654832-T-G
NM_001267550.1(
TTN
):c.1811A>C;(p.E604A)
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:
Sec1/Munc18 protein Vps33 binds to SNARE domains and the quaternary SNARE complex.
Molecular Biology Of The Cell
Lobingier, Braden T BT; Merz, Alexey J AJ
Publication Date: 2012-12
Variant appearance in text: TMD: E604A
PubMed Link:
23051737
Variant Present in the following documents:
4611.pdf
View BVdb publication page
Targeting of the plant vacuolar sorting receptor BP80 is dependent on multiple sorting signals in the cytosolic tail.
The Plant Cell
daSilva, Luis L P LL; Foresti, Ombretta O; Denecke, Jurgen J
Publication Date: 2006-06
Variant appearance in text: TMD: E604A
PubMed Link:
16714388
Variant Present in the following documents:
Main text
View BVdb publication page