PMID: 35330080

Marked to Die-Cell Death Mechanisms for Keratinocyte Acantholysis in Pemphigus Diseases.

Life (Basel, Switzerland)

Bumiller-Bini Hoch, Valéria V, Schneider, Larissa L, Pumpe, Anna Elisabeth AE, Lüders, Emelie E, Hundt, Jennifer Elisabeth JE, Boldt, Angelica Beate Winter ABW

2022-02-22

12 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
2-88867996-G-A	EIF2AK3	c.2985+2396C>T	-	IntronicSNV	-	14/16
3-196506153-A-G	PAK2	c.1-3365A>G	-	IntronicSNV	-	1/14
6-162310496-A-G	PARK2	c.734+83838T>C	-	IntronicSNV	-	6/11
20-1894335-G-A	SIRPA	c.80-1410G>A	-	IntronicSNV	-	1/7
20-1894335-G-C	SIRPA	c.80-1410G>C	-	IntronicSNV	-	1/7
3-196506153-A-C	PAK2	c.1-3365A>C	-	IntronicSNV	-	1/14
3-107776646-A-C	CD47	c.785-230T>G	-	IntronicSNV	-	6/10
1-160182942-G-C	PEA15	c.215G>C	p.R72P	Missense	3/4	-
10-71099913-T-C	HK1	c.64-3670T>C	-	IntronicSNV	-	1/17
17-7579472-G-T	TP53	c.215C>A	p.P72H	Missense	4/11	-
9-139815053-G-A	TRAF2	c.960+86G>A	-	IntronicSNV	-	8/10
11-70049780-G-C	FADD	c.215G>C	p.R72P	Missense	1/2	-