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

1–12 of 174 variants

7 papers

NM_177986.5

p.A129S

c.385G>T

7 papers

NM_177986.5

p.R289*

c.865C>T

6 papers

NM_177986.5

p.S192P

c.574T>C

5 papers

NM_177986.5

p.C255delFs

c.763delT

5 papers

NM_177986.5

p.S680insFs

c.2039_2040insT

4 papers

NM_177986.5

p.V29delFs

c.87delG

4 papers

NM_177986.5

p.L249insFs

c.746_747insT

4 papers

NM_177986.5

p.P267R

c.800C>G

4 papers

NM_177986.5

p.D319N

c.955G>A

3 papers

NM_177986.5

p.R94*

c.280C>T

3 papers

NM_177986.5

p.Y196S

c.587A>C

3 papers

NM_177986.5

p.M208delFs

c.624delG