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.I96del1

c.286_288delATC

Surrounding Variants

2 papers

NM_004360.5

p.Q95H

c.285G>C

2 papers

NM_004360.5

p.Q95H

c.285G>T

1 paper

NM_004360.5

p.I96_H97del2

c.286_290del6

1 paper

NM_004360.5

p.I96fs

c.286_287fs

1 paper

NM_004360.5

p.I96_H97insA

c.286_290ins3

9 papers

NM_004360.5

p.I96V

c.286A>G

4 papers

NM_004360.5

p.I96F

c.286A>T

1 paper

NM_004360.5

p.Q95K

c.283C>A

1 paper

NM_004360.5

p.Q95fs

c.283_284fs

32 papers

NM_004360.5

p.Q95*

c.283C>T

2 papers

NM_004360.5

p.I96T

c.287T>C

1 paper

NM_004360.5

p.I96_H97insFs

c.288_289insC