Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.S838G

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
26 papers
NM_004360.5
p.S838G
c.2512A>G
Surrounding Variants
1 paper
NM_004360.5
p.S838I
c.2513G>T
1 paper
NM_004360.5
p.S838R
c.2514C>A
1 paper
NM_004360.5
p.S838S
c.2514C>T
1 paper
NM_004360.5
p.G837A
c.2510G>C
3 papers
NM_004360.5
p.G839S
c.2515G>A
1 paper
NM_004360.5
p.G837R
c.2509G>A
2 papers
NM_004360.5
p.G837R
c.2509G>C
2 papers
NM_004360.5
p.G837*
c.2509G>T
1 paper
NM_004360.5
p.E836A
c.2507A>C
9 papers
NM_004360.5
p.E836*
c.2506G>T
1 paper
NM_004360.5
p.E836fs
c.2506_2507fs
2 papers
NM_004360.5
p.S840A
c.2518T>G
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