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.A791T

c.2371G>A

Surrounding Variants

1 paper

NM_177986.5

p.E793Q

c.2377G>C

1 paper

NM_177986.5

p.G796R

c.2386G>C

1 paper

NM_177986.5

p.G796V

c.2387G>T

1 paper

NM_177986.5

p.R797*

c.2389C>T

1 paper

NM_177986.5

p.A799V

c.2396C>T

1 paper

NM_177986.5

p.V811F

c.2431G>T

1 paper

NM_177986.5

p.I818delins

c.2453_2454delinsTT

3 papers

NM_177986.5

p.W823*

c.2468G>A

3 papers

NM_177986.5

p.W823*

c.2469G>A

1 paper

NM_177986.5

p.E830K

c.2488G>A

1 paper

NM_177986.5

p.P863P

c.2589A>C

1 paper

NM_177986.5

p.G872R

c.2614G>A