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

2 papers

NM_177986.5

p.Q306*

c.916C>T

Surrounding Variants

1 paper

NM_177986.5

p.Y307C

c.920A>G

1 paper

NM_177986.5

p.E298*

c.892G>T

1 paper

NM_177986.5

p.W317*

c.950G>A

1 paper

NM_177986.5

p.W317L

c.950G>T

1 paper

NM_177986.5

p.F318Y

c.953T>A

4 papers

NM_177986.5

p.D319N

c.955G>A

7 papers

NM_177986.5

p.R289*

c.865C>T

1 paper

NM_177986.5

p.D323_Q325del0

c.969_974del6

2 papers

NM_177986.5

p.D323G

c.968A>G

1 paper

NM_177986.5

p.E286G

c.857A>G

1 paper

NM_177986.5

p.S285*

c.854C>A

1 paper

NM_177986.5

p.N327S

c.980A>G