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.R128W

c.382C>T

Surrounding Variants

7 papers

NM_177986.5

p.A129S

c.385G>T

1 paper

NM_177986.5

p.L124_I125Splc

c.373-2A>G

1 paper

NM_177986.5

p.S132*

c.395C>A

1 paper

NM_177986.5

p.S132*

c.395C>G

1 paper

NM_177986.5

p.R133Q

c.398G>A

1 paper

NM_177986.5

p.R133P

c.398G>C

1 paper

NM_177986.5

p.R133L

c.398G>T

1 paper

NM_177986.5

p.A154delFs

c.462delT

1 paper

NM_177986.5

p.A164insFs

c.490_491insA

1 paper

NM_177986.5

p.S165S

c.495C>T

1 paper

NM_177986.5

p.N173Splc

c.517+1G>T

1 paper

NM_177986.5

p.E118G

c.353A>G