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

3 papers

NM_004360.5

p.Q647*

c.1939C>T

Surrounding Variants

1 paper

NM_004360.5

p.Q647insFs

c.1941dupA

1 paper

NM_004360.5

p.Q647E

c.1939C>G

1 paper

NM_004360.5

p.Q647R

c.1940A>G

1 paper

NM_004360.5

p.T646N

c.1937C>A

1 paper

NM_004360.5

p.T646I

c.1937C>T

1 paper

NM_004360.5

p.T646Splc

c.1937-1G>A

1 paper

NM_004360.5

p.E648Q

c.1942G>C

13 papers

NM_004360.5

p.E648*

c.1942G>T

1 paper

NM_004360.5

p.E648fs

c.1942_1943fs

1 paper

NM_004360.5

p.E648_I651del0

c.1944_1952del9

2 papers

NM_004360.5

p.S649fs

c.1945_1946fs

2 papers

NM_004360.5

p.S649insFs

c.1947dupT