Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.F810L

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.F810L
c.2430T>A
Surrounding Variants
1 paper
NM_004360.5
p.F810L
c.2430T>G
1 paper
NM_004360.5
p.I811fs
c.2431_2432fs
1 paper
NM_004360.5
p.F810C
c.2429T>G
1 paper
NM_004360.5
p.F810L
c.2428T>C
1 paper
NM_004360.5
p.I811T
c.2432T>C
2 papers
NM_004360.5
p.F810fs
c.2428_2429fs
5 papers
NM_004360.5
p.F810fs
c.2428_2429fs
1 paper
NM_004360.5
p.N809K
c.2427T>A
1 paper
NM_004360.5
p.N809S
c.2426A>G
11 papers
NM_004360.5
p.F810delFs
c.2430delT
1 paper
NM_004360.5
p.D812Y
c.2434G>T
2 papers
NM_004360.5
p.N809fs
c.2425_2426fs
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