Variant ID: 1-55517966-TG-AC

NM_174936.3(PCSK9):c.539_540delinsAC;(p.Val180Asp)

This variant was identified in 1 publication



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

Publications:

Rho and anillin-dependent control of mDia2 localization and function in cytokinesis.

Molecular Biology Of The Cell
S Watanabe, K Okawa, T Miki, S Sakamoto, T Morinaga, K Segawa, T Arakawa, M Kinoshita, T Ishizaki, S Narumiya
Publication Date: 2010-09-15

Variant appearance in text: FH3: V180D
PMID: 20660154
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.539_540delinsAC p.Val180Asp missense_variant 4/12 -
ENST00000452118.2 c.*183_*184delinsAC - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1360_1361delinsAC - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.-62_-61delinsAC - 5_prime_UTR_variant 2/10 -
NM_174936.4 c.539_540delinsAC p.Val180Asp missense_variant 4/12 -
NR_110451.1 n.198_199delinsAC - non_coding_transcript_exon_variant 2/10 -