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

Selected Variant

1 paper

NM_001942.4

p.E50delFs

c.150delA

Surrounding Variants

1 paper

NM_001942.4

p.W51*

c.152G>A

1 paper

NM_001942.4

p.W51*

c.153G>A

1 paper

NM_001942.4

p.Q47_K48insFs

c.141_142ins38

1 paper

NM_001942.4

p.K53delFs

c.157delA

1 paper

NM_001942.4

p.R46K

c.137G>A

2 papers

NM_001942.4

p.R45Q

c.134G>A

5 papers

NM_001942.4

p.R45*

c.133C>T

2 papers

NM_001942.4

p.A55_A56insFs

c.165_168dup4

1 paper

NM_001942.4

p.A56insFs

c.166_167insA

1 paper

NM_001942.4

p.A57fs

c.169_170fs

3 papers

NM_001942.4

p.W41fs

c.121_122fs

7 papers

NM_001942.4

p.W41insFs

c.121_122insT