Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.W638C

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.W638C
c.1914G>T
Surrounding Variants
15 papers
NM_004360.5
p.W638*
c.1914G>A
1 paper
NM_004360.5
p.W638C
c.1914G>C
23 papers
NM_004360.5
p.W638*
c.1913G>A
1 paper
NM_004360.5
p.W638insFs
c.1913_1914ins16
2 papers
NM_004360.5
p.T639_I640delFs
c.1917_1918delCA
1 paper
NM_004360.5
p.N637K
c.1911C>A
1 paper
NM_004360.5
p.W638insFs
c.1912dupT
1 paper
NM_004360.5
p.N637S
c.1910A>G
1 paper
NM_004360.5
p.I640fs
c.1918_1919fs
17 papers
NM_004360.5
p.Q641*
c.1921C>T
3 papers
NM_004360.5
p.A636V
c.1907C>T
4 papers
NM_004360.5
p.A636T
c.1906G>A
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