Varaico: Literature-Extracted Genetic Variants

Gene:CDH2
Variant:p.I308V

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.I308V
c.922A>G
Surrounding Variants
1 paper
NM_001792.5
p.Y306delFs
c.917_918delGT
2 papers
NM_001792.5
p.V309M
c.925G>A
1 paper
NM_001792.5
p.R307G
c.919A>G
1 paper
NM_001792.5
p.P313S
c.937C>T
1 paper
NM_001792.5
p.S314S
c.942C>T
2 papers
NM_001792.5
p.L300L
c.900C>A
1 paper
NM_001792.5
p.P316H
c.947C>A
1 paper
NM_001792.5
p.N298I
c.893A>T
1 paper
NM_001792.5
p.P297S
c.889C>T
1 paper
NM_001792.5
p.D296Y
c.886G>T
1 paper
NM_001792.5
p.M320V
c.958A>G
1 paper
NM_001792.5
p.I323V
c.967A>G
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