Varaico: Literature-Extracted Genetic Variants

DSG4

177 papers

RefSeq Summary

This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane co...

Pfam Domains

Cadherinaa 54–148UCSCCadherin domain

Cadherinaa 162–260UCSCCadherin domain

Cadherinaa 274–377UCSCCadherin domain

Cadherinaa 391–488UCSCCadherin domain

CADH_Y-type_LIRaa 791–848UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

desmoglein 4

HGNC Alias Symbols

CDHF13; LAH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_177986.5

p.M208delFs

c.624delG

Surrounding Variants

1 paper

NM_177986.5

p.R213K

c.638G>A

1 paper

NM_177986.5

p.E202K

c.604G>A

3 papers

NM_177986.5

p.Y196S

c.587A>C

6 papers

NM_177986.5

p.S192P

c.574T>C

2 papers

NM_177986.5

p.E228V

c.683A>T

1 paper

NM_177986.5

p.N188Y

c.562A>T

1 paper

NM_177986.5

p.S231N

c.692G>A

1 paper

NM_177986.5

p.D241delFs

c.721delG

1 paper

NM_177986.5

p.D241N

c.721G>A

1 paper

NM_177986.5

p.D243delFs

c.727delG

1 paper

NM_177986.5

p.A245V

c.734C>T

4 papers

NM_177986.5

p.L249insFs

c.746_747insT