Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.G53fs

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.G53fs
c.157_158fs
Surrounding Variants
2 papers
NM_004360.5
p.G53D
c.158G>A
1 paper
NM_004360.5
p.G53A
c.158G>C
1 paper
NM_004360.5
p.G53_R54insFs
c.159_160insA
1 paper
NM_004360.5
p.L52P
c.155T>C
1 paper
NM_004360.5
p.R54_V55ins4
c.160_164ins12
14 papers
NM_004360.5
p.R54R
c.160A>C
6 papers
NM_004360.5
p.R54G
c.160A>G
3 papers
NM_004360.5
p.R54*
c.160A>T
1 paper
NM_004360.5
p.R54fs
c.160_161fs
1 paper
NM_004360.5
p.L52fs
c.154_155fs
1 paper
NM_004360.5
p.L52V
c.154C>G
1 paper
NM_004360.5
p.L52L
c.154C>T
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