Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.R779W

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
7 papers
NM_004360.5
p.R779W
c.2335C>T
Surrounding Variants
1 paper
NM_004360.5
p.R779fs
c.2335_2336fs
6 papers
NM_004360.5
p.R779Q
c.2336G>A
1 paper
NM_004360.5
p.P780fs
c.2338_2339fs
1 paper
NM_004360.5
p.P780S
c.2338C>T
1 paper
NM_004360.5
p.A778T
c.2332G>A
1 paper
NM_004360.5
p.A778S
c.2332G>T
1 paper
NM_004360.5
p.D777E
c.2331C>A
1 paper
NM_004360.5
p.P780H
c.2339C>A
1 paper
NM_004360.5
p.D777E
c.2331C>G
3 papers
NM_004360.5
p.P780L
c.2339C>T
1 paper
NM_004360.5
p.D777G
c.2330A>G
1 paper
NM_004360.5
p.E781delFs
c.2341delG
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