Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.I707fs

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.I707fs
c.2119_2120fs
Surrounding Variants
1 paper
NM_004360.5
p.I707delFs
c.2121delT
1 paper
NM_004360.5
p.I707I
c.2121T>A
5 papers
NM_004360.5
p.P708fs
c.2122_2123fs
1 paper
NM_004360.5
p.Q706E
c.2116C>G
7 papers
NM_004360.5
p.Q706*
c.2116C>T
1 paper
NM_004360.5
p.Q706delFs
c.2117delA
3 papers
NM_004360.5
p.P708fs
c.2122_2123fs
1 paper
NM_004360.5
p.P708L
c.2123C>T
1 paper
NM_004360.5
p.Q706delFs
c.2116delC
1 paper
NM_004360.5
p.L705*
c.2114T>A
1 paper
NM_004360.5
p.A709T
c.2125G>A
1 paper
NM_004360.5
p.A709S
c.2125G>T
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