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.T520_S521delFs

c.1560_1561delTT

Surrounding Variants

3 papers

NM_001942.4

p.S521fs

c.1561_1562fs

1 paper

NM_001942.4

p.D516G

c.1547A>G

1 paper

NM_001942.4

p.R506K

c.1517G>A

1 paper

NM_001942.4

p.L539V

c.1615T>G

8 papers

NM_001942.4

p.N543delFs

c.1627delA

1 paper

NM_001942.4

p.N543fs

c.1627_1628fs

2 papers

NM_001942.4

p.N543fs

c.1627_1628fs

1 paper

NM_001942.4

p.N493T

c.1478A>C

1 paper

NM_001942.4

p.G552R

c.1654G>A

1 paper

NM_001942.4

p.G552R

c.1654G>C

1 paper

NM_001942.4

p.G552E

c.1655G>A

1 paper

NM_001942.4

p.S485G

c.1453A>G