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

10 papers

NM_001942.4

p.L16_V17Splc

c.49-1G>A

Surrounding Variants

3 papers

NM_001942.4

p.V18L

c.52G>T

2 papers

NM_001942.4

p.V18E

c.53T>A

1 paper

NM_001942.4

p.V18A

c.53T>C

1 paper

NM_001942.4

p.N22I

c.65A>T

1 paper

NM_001942.4

p.E24G

c.71A>G

13 papers

NM_001942.4

p.R26*

c.76C>T

1 paper

NM_001942.4

p.I27M

c.81C>G

1 paper

NM_001942.4

p.Q28_V29insFs

c.84_85insT

8 papers

NM_001942.4

p.Q28_V29Splc

c.85-1G>A

1 paper

NM_001942.4

p.R30*

c.88A>T

1 paper

NM_001942.4

p.K35E

c.103A>G

1 paper

NM_001942.4

p.T38_H42delFs

c.112_124del13