Variant ID: 11-66636391-CCT-TGT

NM_001040716.1(PC):c.947_948delinsCA;(p.Arg316Thr)

This variant was identified in 1 publication



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

Publications:

Is there a link between proprotein convertase PC7 activity and human lipid homeostasis?

Febs Open Bio
J Guillemot, R Essalmani, J Hamelin, NG Seidah
Publication Date: 2014

Variant appearance in text: PC: R316C
PubMed Link: 25349778
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000355677.3 c.947_948delinsCA p.Arg316Thr missense_variant 9/12 -
ENST00000393955.2 c.947_948delinsCA p.Arg316Thr missense_variant 8/21 -
ENST00000393958.2 c.947_948delinsCA p.Arg316Thr missense_variant 9/22 -
ENST00000393960.1 c.947_948delinsCA p.Arg316Thr missense_variant 10/23 -
ENST00000524491.1 c.827_828delinsCA p.Arg276Thr missense_variant 9/12 -
NM_000920.4 c.947_948delinsCA p.Arg316Thr missense_variant 9/22 -
NM_001040716.2 c.947_948delinsCA p.Arg316Thr missense_variant 10/23 -
NM_022172.3 c.947_948delinsCA p.Arg316Thr missense_variant 8/21 -
- - TF_binding_site_variant - -