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SI c.5116_5117delinsGC ;(p.K1706A)
Variant ID: 3-164705006-TT-GC
NM_001041.3(
SI
):c.5116_5117delinsGC;(p.K1706A)
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:
Melanophilin Stimulates Myosin-5a Motor Function by Allosterically Inhibiting the Interaction between the Head and Tail of Myosin-5a.
Scientific Reports
Yao, Lin-Lin LL; Cao, Qing-Juan QJ; Zhang, Hai-Man HM; Zhang, Jie J; Cao, Yang Y; Li, Xiang-Dong XD
Publication Date: 2015-06-03
Variant appearance in text: SI: K1706A
PubMed Link:
26039755
Variant Present in the following documents:
Main text
srep10874.pdf
View BVdb publication page
The globular tail domain puts on the brake to stop the ATPase cycle of myosin Va.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Li, Xiang-Dong XD; Jung, Hyun Suk HS; Wang, Qizhi Q; Ikebe, Reiko R; Craig, Roger R; Ikebe, Mitsuo M
Publication Date: 2008-01-29
Variant appearance in text: SI: K1706A
PubMed Link:
18216256
Variant Present in the following documents:
Main text
View BVdb publication page