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

2 papers

NM_001942.4

p.Y126fs

c.376_377fs

Surrounding Variants

1 paper

NM_001942.4

p.Y126delFs

c.376delT

3 papers

NM_001942.4

p.I124_I125Splc

c.373-2A>G

4 papers

NM_001942.4

p.R128*

c.382C>T

1 paper

NM_001942.4

p.R128L

c.383G>T

11 papers

NM_001942.4

p.S132*

c.395C>A

11 papers

NM_001942.4

p.S132*

c.395C>G

1 paper

NM_001942.4

p.M133R

c.398T>G

1 paper

NM_001942.4

p.Q135E

c.403C>G

4 papers

NM_001942.4

p.R144*

c.430A>T

1 paper

NM_001942.4

p.D152E

c.456C>A

1 paper

NM_001942.4

p.N153K

c.459C>G

1 paper

NM_001942.4

p.V156insFs

c.467_468insT