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.P744fs

c.2230_2231fs

Surrounding Variants

1 paper

NM_004360.5

p.P744S

c.2230C>T

1 paper

NM_004360.5

p.P744fs

c.2230_2231fs

1 paper

NM_004360.5

p.P744P

c.2232A>G

1 paper

NM_004360.5

p.E745_D750del0

c.2235_2249del15

1 paper

NM_004360.5

p.P743H

c.2228C>A

3 papers

NM_004360.5

p.P743A

c.2227C>G

1 paper

NM_004360.5

p.E745Q

c.2233G>C

1 paper

NM_004360.5

p.E745G

c.2234A>G

1 paper

NM_004360.5

p.L742_P743delins

c.2226_2227delinsCG

2 papers

NM_004360.5

p.L742fs

c.2224_2225fs

1 paper

NM_004360.5

p.D746N

c.2236G>A

1 paper

NM_004360.5

p.D746fs

c.2236_2237fs