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.A348T

c.1042G>A

Surrounding Variants

1 paper

NM_004360.5

p.A348fs

c.1042_1043fs

2 papers

NM_004360.5

p.A348V

c.1043C>T

1 paper

NM_004360.5

p.A347D

c.1040C>A

2 papers

NM_004360.5

p.A347V

c.1040C>T

2 papers

NM_004360.5

p.A347T

c.1039G>A

1 paper

NM_004360.5

p.D349N

c.1045G>A

1 paper

NM_004360.5

p.A347fs

c.1039_1040fs

3 papers

NM_004360.5

p.D349Y

c.1045G>T

2 papers

NM_004360.5

p.A347S

c.1039G>T

1 paper

NM_004360.5

p.D349delFs

c.1046delA

1 paper

NM_004360.5

p.D349A

c.1046A>C

3 papers

NM_004360.5

p.D349V

c.1046A>T