Variant ID: 1-201252909-T-G

NM_000299.3(PKP1):c.79T>G;(p.Ser27Ala)

This variant was identified in 1 publication



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

Publications:

Combined proteomic and metabolomic analyses of cerebrospinal fluid from mice with ischemic stroke reveals the effects of a Buyang Huanwu decoction in neurodegenerative disease.

Plos One
WH Hsu, YC Shen, YJ Shiao, CH Kuo, CK Lu, TY Lin, WC Ku, YL Lin
Publication Date: 2019

Variant appearance in text: PKP1: S27a
PMID: 30645580
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000263946.3 c.79T>G p.Ser27Ala missense_variant 1/15 -
ENST00000352845.3 c.79T>G p.Ser27Ala missense_variant 1/14 -
ENST00000367324.3 c.79T>G p.Ser27Ala missense_variant 1/14 -
NM_000299.3 c.79T>G p.Ser27Ala missense_variant 1/15 -
NM_001005337.3 c.79T>G p.Ser27Ala missense_variant 1/14 -