Varaico: Literature-Extracted Genetic Variants

DSG1

248 papers

RefSeq Summary

This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosom...

Pfam Domains

Cadherinaa 54–148UCSCCadherin domain

Cadherinaa 162–260UCSCCadherin domain

Cadherinaa 274–376UCSCCadherin domain

CADH_Y-type_LIRaa 706–762UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

desmoglein 1

HGNC Alias Symbol

CDHF4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 289 variants

14 papers

NM_001942.4

p.R887*

c.2659C>T

13 papers

NM_001942.4

p.R26*

c.76C>T

11 papers

NM_001942.4

p.S132*

c.395C>A

11 papers

NM_001942.4

p.S132*

c.395C>G

10 papers

NM_001942.4

p.L16_V17Splc

c.49-1G>A

10 papers

NM_001942.4

p.Y365*

c.1095T>A

10 papers

NM_001942.4

p.Y365*

c.1095T>G

8 papers

NM_001942.4

p.Q28_V29Splc

c.85-1G>A

8 papers

NM_001942.4

p.S360insFs

c.1079_1080insC

8 papers

NM_001942.4

p.N397delFs

c.1189delA

8 papers

NM_001942.4

p.N543delFs

c.1627delA

8 papers

NM_001942.4

p.A621delFs

c.1861delG