Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.E763D

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.E763D
c.2289G>T
Surrounding Variants
1 paper
NM_004360.5
p.E763E
c.2289G>A
1 paper
NM_004360.5
p.E763D
c.2289G>C
1 paper
NM_004360.5
p.E763A
c.2288A>C
1 paper
NM_004360.5
p.D764delFs
c.2290delG
2 papers
NM_004360.5
p.D764N
c.2290G>A
2 papers
NM_004360.5
p.D764fs
c.2290_2291fs
2 papers
NM_004360.5
p.D764fs
c.2290_2291fs
3 papers
NM_004360.5
p.Q765insFs
c.2293_2294insC
1 paper
NM_004360.5
p.D764A
c.2291A>C
2 papers
NM_004360.5
p.E763K
c.2287G>A
1 paper
NM_004360.5
p.E763fs
c.2287_2288fs
20 papers
NM_004360.5
p.E763*
c.2287G>T
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