Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.E353Q

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.E353Q
c.1057G>C
Surrounding Variants
10 papers
NM_004360.5
p.E353K
c.1057G>A
3 papers
NM_004360.5
p.E353fs
c.1057_1058fs
6 papers
NM_004360.5
p.E353*
c.1057G>T
1 paper
NM_004360.5
p.E353G
c.1058A>G
4 papers
NM_004360.5
p.G354delFs
c.1062delG
1 paper
NM_004360.5
p.E353_L355del0
c.1059_1064del6
1 paper
NM_004360.5
p.G352D
c.1055G>A
1 paper
NM_004360.5
p.E353E
c.1059G>A
1 paper
NM_004360.5
p.G352A
c.1055G>C
3 papers
NM_004360.5
p.G354R
c.1060G>A
1 paper
NM_004360.5
p.G354R
c.1060G>C
2 papers
NM_004360.5
p.G352fs
c.1054_1055fs
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