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.T610delFs

c.1830delC

Surrounding Variants

2 papers

NM_001942.4

p.R607_D608Splc

c.1822-1G>T

2 papers

NM_001942.4

p.R607_D608Splc

c.1822-8T>G

8 papers

NM_001942.4

p.A621delFs

c.1861delG

1 paper

NM_001942.4

p.A621fs

c.1861_1862fs

7 papers

NM_001942.4

p.A621fs

c.1861_1862fs

1 paper

NM_001942.4

p.I624_E625delFs

c.1870_1873del4

1 paper

NM_001942.4

p.E625_C626delFs

c.1874_1877del4

1 paper

NM_001942.4

p.R607K

c.1820G>A

1 paper

NM_001942.4

p.P604S

c.1810C>T

1 paper

NM_001942.4

p.A598V

c.1793C>T

1 paper

NM_001942.4

p.A598T

c.1792G>A

1 paper

NM_001942.4

p.D591D

c.1773T>C