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

1 paper

NM_004360.5

p.L350I

c.1048C>A

Surrounding Variants

1 paper

NM_004360.5

p.D349D

c.1047C>T

1 paper

NM_004360.5

p.L350P

c.1049T>C

1 paper

NM_004360.5

p.D349A

c.1046A>C

3 papers

NM_004360.5

p.D349V

c.1046A>T

1 paper

NM_004360.5

p.Q351fs

c.1051_1052fs

8 papers

NM_004360.5

p.Q351*

c.1051C>T

1 paper

NM_004360.5

p.Q351fs

c.1051_1052fs

1 paper

NM_004360.5

p.D349N

c.1045G>A

3 papers

NM_004360.5

p.D349Y

c.1045G>T

1 paper

NM_004360.5

p.D349delFs

c.1046delA

1 paper

NM_004360.5

p.G352_E353delFs

c.1054_1058del5

1 paper

NM_004360.5

p.G352delFs

c.1055delG