Variant ID: 1-201263150-G-A

NM_000299.3(PKP1):c.283G>A;(p.Gly95Arg)

This variant was identified in 1 publication




Publications:


Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.

The Journal Of Allergy And Clinical Immunology
MA McAleer, E Pohler, FJ Smith, NJ Wilson, C Cole, S MacGowan, JL Koetsier, LM Godsel, RM Harmon, R Gruber, D Crumrine, PM Elias, M McDermott, K Butler, A Broderick, O Sarig, E Sprecher, KJ Green, WH McLean, AD Irvine
Publication Date: 2015-11

Variant appearance in text: PKP1: Gly95Arg
PMID: 26073755
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000263946.3 c.283G>A p.Gly95Arg missense_variant 2/15 -
ENST00000352845.3 c.283G>A p.Gly95Arg missense_variant 2/14 -
ENST00000367324.3 c.283G>A p.Gly95Arg missense_variant 2/14 -
NM_000299.3 c.283G>A p.Gly95Arg missense_variant 2/15 -
NM_001005337.3 c.283G>A p.Gly95Arg missense_variant 2/14 -