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.V90L

c.268G>C

Surrounding Variants

1 paper

NM_177986.5

p.R86R

c.258G>A

2 papers

NM_177986.5

p.R86Q

c.257G>A

3 papers

NM_177986.5

p.R94*

c.280C>T

2 papers

NM_177986.5

p.S79L

c.236C>T

1 paper

NM_177986.5

p.I102L

c.304A>C

1 paper

NM_177986.5

p.I102V

c.304A>G

1 paper

NM_177986.5

p.R105R

c.315C>T

1 paper

NM_177986.5

p.R74*

c.220C>T

1 paper

NM_177986.5

p.G107R

c.319G>A

1 paper

NM_177986.5

p.G107R

c.319G>C

1 paper

NM_177986.5

p.I111N

c.332T>A

1 paper

NM_177986.5

p.T112_S113del2

c.334_338del6