Varaico: Literature-Extracted Genetic Variants

Gene:CDH2
Variant:p.E326K

CDH2

500 papers

RefSeq Summary

This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolyti...

Pfam Domains

Cadherin_proaa 31–121UCSCCadherin prodomain like
Cadherin_proaa 31–121UCSCCadherin prodomain like
Cadherinaa 164–258UCSCCadherin domain
Cadherinaa 273–373UCSCCadherin domain
Cadherinaa 387–489UCSCCadherin domain
Cadherinaa 502–596UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin 2

HGNC Previous Symbol

NCAD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001792.5
p.E326K
c.976G>A
Surrounding Variants
1 paper
NM_001792.5
p.E326A
c.977A>C
1 paper
NM_001792.5
p.G328S
c.982G>A
1 paper
NM_001792.5
p.N324D
c.970A>G
1 paper
NM_001792.5
p.G328A
c.983G>C
1 paper
NM_001792.5
p.I323V
c.967A>G
1 paper
NM_001792.5
p.M320V
c.958A>G
1 paper
NM_001792.5
p.A335V
c.1004C>T
1 paper
NM_001792.5
p.P316H
c.947C>A
1 paper
NM_001792.5
p.S314S
c.942C>T
1 paper
NM_001792.5
p.R339*
c.1015C>T
1 paper
NM_001792.5
p.P313S
c.937C>T
1 paper
NM_001792.5
p.R339G
c.1015C>G
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