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.P776S

c.2326C>T

Surrounding Variants

1 paper

NM_001942.4

p.L763I

c.2287C>A

1 paper

NM_001942.4

p.I761I

c.2283C>A

1 paper

NM_001942.4

p.D760N

c.2278G>A

1 paper

NM_001942.4

p.I799S

c.2396T>G

1 paper

NM_001942.4

p.G804S

c.2410G>A

1 paper

NM_001942.4

p.V808V

c.2424A>G

1 paper

NM_001942.4

p.I809I

c.2427T>A

1 paper

NM_001942.4

p.S810Y

c.2429C>A

1 paper

NM_001942.4

p.S810F

c.2429C>T

1 paper

NM_001942.4

p.E811*

c.2431G>T

2 papers

NM_001942.4

p.T813_G817delFs

c.2437_2450del14

2 papers

NM_001942.4

p.I739V

c.2215A>G