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

4 papers

NM_177986.5

p.V29delFs

c.87delG

Surrounding Variants

1 paper

NM_177986.5

p.K30K

c.90G>A

1 paper

NM_177986.5

p.E31K

c.91G>A

1 paper

NM_177986.5

p.E35fs

c.103_104fs

1 paper

NM_177986.5

p.E35delFs

c.104delA

1 paper

NM_177986.5

p.T38delFs

c.112_113delAC

1 paper

NM_177986.5

p.T38A

c.112A>G

1 paper

NM_177986.5

p.Q42_T43delFs

c.124_127del4

1 paper

NM_177986.5

p.T43fs

c.127_128fs

1 paper

NM_177986.5

p.T43A

c.127A>G

1 paper

NM_177986.5

p.R45K

c.134G>A

1 paper

NM_177986.5

p.K48M

c.143A>T

1 paper

NM_177986.5

p.K48K

c.144G>A