Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.A575fs

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.A575fs
c.1723_1724fs
Surrounding Variants
1 paper
NM_004360.5
p.A575T
c.1723G>A
1 paper
NM_004360.5
p.T576fs
c.1726_1727fs
2 papers
NM_004360.5
p.V574fs
c.1720_1721fs
1 paper
NM_004360.5
p.V574delFs
c.1721delT
1 paper
NM_004360.5
p.P573insFs
c.1718_1719insA
1 paper
NM_004360.5
p.P573R
c.1718C>G
2 papers
NM_004360.5
p.P573L
c.1718C>T
1 paper
NM_004360.5
p.G577delFs
c.1729delG
2 papers
NM_004360.5
p.G577fs
c.1729_1730fs
1 paper
NM_004360.5
p.G577*
c.1729G>T
1 paper
NM_004360.5
p.G577E
c.1730G>A
1 paper
NM_004360.5
p.S572F
c.1715C>T
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