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.A598V

c.1793C>T

Surrounding Variants

1 paper

NM_001942.4

p.A598T

c.1792G>A

1 paper

NM_001942.4

p.P604S

c.1810C>T

1 paper

NM_001942.4

p.D591D

c.1773T>C

3 papers

NM_001942.4

p.D591fs

c.1771_1772fs

1 paper

NM_001942.4

p.R607K

c.1820G>A

3 papers

NM_001942.4

p.D591_H595delFs

c.1771_1784del14

1 paper

NM_001942.4

p.E588K

c.1762G>A

1 paper

NM_001942.4

p.E584K

c.1750G>A

1 paper

NM_001942.4

p.D572N

c.1714G>A

1 paper

NM_001942.4

p.C570F

c.1709G>T

1 paper

NM_001942.4

p.F566I

c.1696T>A

2 papers

NM_001942.4

p.L563Splc

c.1688-1G>T