Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.E336A

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.E336A
c.1007A>C
Surrounding Variants
4 papers
NM_004360.5
p.E336delFs
c.1008delG
10 papers
NM_004360.5
p.E336E
c.1008G>A
3 papers
NM_004360.5
p.E336K
c.1006G>A
12 papers
NM_004360.5
p.E336D
c.1008G>C
45 papers
NM_004360.5
p.E336D
c.1008G>T
2 papers
NM_004360.5
p.E336*
c.1006G>T
1 paper
NM_004360.5
p.E336fs
c.1006_1007fs
1 paper
NM_004360.5
p.R335R
c.1005A>G
1 paper
NM_004360.5
p.E336del1
c.1006_1007delGAG
8 papers
NM_004360.5
p.E336_S337Splc
c.1008+1G>A
1 paper
NM_004360.5
p.E336_S337Splc
c.1008+1G>T
10 papers
NM_004360.5
p.R335Q
c.1004G>A
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