Varaico: Literature-Extracted Genetic Variants

CDH1

2,725 papers

RefSeq Summary

This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically ...

Pfam Domains

Cadherin_proaa 27–116UCSCCadherin prodomain like

Cadherinaa 159–253UCSCCadherin domain

Cadherinaa 267–366UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin 1

HGNC Previous Symbol

UVO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004360.5

p.R733S

c.2199G>T

Surrounding Variants

1 paper

NM_004360.5

p.R733S

c.2199G>C

1 paper

NM_004360.5

p.R734*

c.2200A>T

2 papers

NM_004360.5

p.R733fs

c.2197_2198fs

1 paper

NM_004360.5

p.R733_P740delFs

c.2198_2219del22

1 paper

NM_004360.5

p.R734T

c.2201G>C

2 papers

NM_004360.5

p.R734S

c.2202A>C

2 papers

NM_004360.5

p.R734S

c.2202A>T

58 papers

NM_004360.5

p.R732Q

c.2195G>A

1 paper

NM_004360.5

p.A735T

c.2203G>A

1 paper

NM_004360.5

p.A735P

c.2203G>C

1 paper

NM_004360.5

p.R732L

c.2195G>T

1 paper

NM_004360.5

p.A735_K738delFs

c.2204_2213del10