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

1 paper

NM_177986.5

p.G731R

c.2191G>A

Surrounding Variants

1 paper

NM_177986.5

p.G731R

c.2191G>C

1 paper

NM_177986.5

p.T740insFs

c.2219dupC

1 paper

NM_177986.5

p.A721A

c.2163C>T

1 paper

NM_177986.5

p.G748E

c.2243G>A

1 paper

NM_177986.5

p.A752G

c.2255C>G

1 paper

NM_177986.5

p.A755V

c.2264C>T

1 paper

NM_177986.5

p.A756T

c.2266G>A

1 paper

NM_177986.5

p.R767Q

c.2300G>A

1 paper

NM_177986.5

p.E785_K786Splc

c.2355+1G>A

2 papers

NM_177986.5

p.D707fs

c.2119_2120fs

2 papers

NM_177986.5

p.D707delFs

c.2119delG

1 paper

NM_177986.5

p.T705N

c.2114C>A