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

10 papers

NM_001942.4

p.Y365*

c.1095T>G

Surrounding Variants

10 papers

NM_001942.4

p.Y365*

c.1095T>A

2 papers

NM_001942.4

p.I361fs

c.1081_1082fs

8 papers

NM_001942.4

p.S360insFs

c.1079_1080insC

1 paper

NM_001942.4

p.S360fs

c.1078_1079fs

1 paper

NM_001942.4

p.E356delFs

c.1067_1068delAA

1 paper

NM_001942.4

p.Q343del1

c.1027_1028delCAG

1 paper

NM_001942.4

p.L337*

c.1010T>A

1 paper

NM_001942.4

p.L337*

c.1010T>G

1 paper

NM_001942.4

p.T395S

c.1183A>T

1 paper

NM_001942.4

p.T395S

c.1184C>G

8 papers

NM_001942.4

p.N397delFs

c.1189delA

1 paper

NM_001942.4

p.N397fs

c.1189_1190fs