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.F876L

c.2626T>C

Surrounding Variants

1 paper

NM_177986.5

p.G872R

c.2614G>A

1 paper

NM_177986.5

p.G872R

c.2614G>C

1 paper

NM_177986.5

p.G882G

c.2646A>C

1 paper

NM_177986.5

p.P863P

c.2589A>C

1 paper

NM_177986.5

p.D915_P916insFs

c.2745_2746ins4

1 paper

NM_177986.5

p.P916S

c.2746C>T

1 paper

NM_177986.5

p.P916P

c.2748A>G

1 paper

NM_177986.5

p.V918M

c.2752G>A

1 paper

NM_177986.5

p.E830K

c.2488G>A

3 papers

NM_177986.5

p.W823*

c.2469G>A

3 papers

NM_177986.5

p.W823*

c.2468G>A

1 paper

NM_177986.5

p.N932K

c.2796T>A