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

8 papers

NM_001942.4

p.N397delFs

c.1189delA

Surrounding Variants

1 paper

NM_001942.4

p.N397fs

c.1189_1190fs

2 papers

NM_001942.4

p.N397fs

c.1189_1190fs

1 paper

NM_001942.4

p.T395S

c.1184C>G

1 paper

NM_001942.4

p.T395S

c.1183A>T

3 papers

NM_001942.4

p.S400*

c.1199C>A

3 papers

NM_001942.4

p.S400*

c.1199C>G

1 paper

NM_001942.4

p.L412delFs

c.1234delC

2 papers

NM_001942.4

p.R422Splc

c.1265+1G>A

10 papers

NM_001942.4

p.Y365*

c.1095T>A

10 papers

NM_001942.4

p.Y365*

c.1095T>G

2 papers

NM_001942.4

p.I361fs

c.1081_1082fs

8 papers

NM_001942.4

p.S360insFs

c.1079_1080insC