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.T930I

c.2789C>T

Surrounding Variants

1 paper

NM_001942.4

p.T930N

c.2789C>A

1 paper

NM_001942.4

p.A946V

c.2837C>T

1 paper

NM_001942.4

p.A900V

c.2699C>T

1 paper

NM_001942.4

p.G969_I974del6

c.2905_2921del18

1 paper

NM_001942.4

p.R887Q

c.2660G>A

14 papers

NM_001942.4

p.R887*

c.2659C>T

1 paper

NM_001942.4

p.G978V

c.2933G>T

1 paper

NM_001942.4

p.M880I

c.2640G>A

1 paper

NM_001942.4

p.M880I

c.2640G>C

1 paper

NM_001942.4

p.M880I

c.2640G>T

3 papers

NM_001942.4

p.A875T

c.2623G>A

5 papers

NM_001942.4

p.I872fs

c.2614_2615fs