Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.R774G

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
4 papers
NM_004360.5
p.R774G
c.2320A>G
Surrounding Variants
2 papers
NM_004360.5
p.G775delFs
c.2324delG
1 paper
NM_004360.5
p.R774_L776del3
c.2320_2327del9
2 papers
NM_004360.5
p.H773Y
c.2317C>T
1 paper
NM_004360.5
p.G775fs
c.2323_2324fs
3 papers
NM_004360.5
p.G775fs
c.2323_2324fs
1 paper
NM_004360.5
p.G775insFs
c.2324_2325ins8
1 paper
NM_004360.5
p.L772_H773insFs
c.2316_2317ins5
1 paper
NM_004360.5
p.G775V
c.2324G>T
2 papers
NM_004360.5
p.L772Q
c.2315T>A
1 paper
NM_004360.5
p.L772R
c.2315T>G
2 papers
NM_004360.5
p.L776M
c.2326C>A
1 paper
NM_004360.5
p.L772fs
c.2314_2315fs
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