Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.C60*

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
Cadherin_proaa 27–116UCSCCadherin prodomain like
Cadherin_proaa 27–116UCSCCadherin prodomain like
Cadherinaa 159–253UCSCCadherin domain
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.C60*
c.180C>A
Surrounding Variants
4 papers
NM_004360.5
p.T61A
c.181A>G
1 paper
NM_004360.5
p.T61S
c.181A>T
1 paper
NM_004360.5
p.C60Y
c.179G>A
1 paper
NM_004360.5
p.C60S
c.179G>C
1 paper
NM_004360.5
p.T61N
c.182C>A
2 papers
NM_004360.5
p.T61I
c.182C>T
2 papers
NM_004360.5
p.C60R
c.178T>C
1 paper
NM_004360.5
p.T61_G62insFs
c.183_184insG
1 paper
NM_004360.5
p.T61T
c.183C>G
2 papers
NM_004360.5
p.T61delins
c.183delinsT
1 paper
NM_004360.5
p.D59E
c.177T>A
1 paper
NM_004360.5
p.D59G
c.176A>G
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