Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.I83T

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.I83T
c.248T>C
Surrounding Variants
1 paper
NM_004360.5
p.I83insFs
c.249dupT
1 paper
NM_004360.5
p.I83_V85delFs
c.248_255del8
1 paper
NM_004360.5
p.I83I
c.249T>C
1 paper
NM_004360.5
p.T84fs
c.250_251fs
1 paper
NM_004360.5
p.T84A
c.250A>G
1 paper
NM_004360.5
p.T84K
c.251C>A
2 papers
NM_004360.5
p.T84I
c.251C>T
1 paper
NM_004360.5
p.V82A
c.245T>C
3 papers
NM_004360.5
p.V82M
c.244G>A
4 papers
NM_004360.5
p.V82L
c.244G>C
8 papers
NM_004360.5
p.V82fs
c.244_245fs
1 paper
NM_004360.5
p.V82L
c.244G>T
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