Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.T379del1

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.T379del1
c.1135_1136delACG
Surrounding Variants
1 paper
NM_004360.5
p.T379insFs
c.1135_1136insA
1 paper
NM_004360.5
p.T379fs
c.1135_1136fs
1 paper
NM_004360.5
p.T378S
c.1133C>G
1 paper
NM_004360.5
p.T378I
c.1133C>T
1 paper
NM_004360.5
p.T378A
c.1132A>G
2 papers
NM_004360.5
p.T378fs
c.1132_1133fs
3 papers
NM_004360.5
p.T379insFs
c.1136_1137insG
6 papers
NM_004360.5
p.T379M
c.1136C>T
53 papers
NM_004360.5
p.T379T
c.1137G>A
5 papers
NM_004360.5
p.T379T
c.1137G>T
2 papers
NM_004360.5
p.P377R
c.1130C>G
2 papers
NM_004360.5
p.P377L
c.1130C>T
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