Varaico: Literature-Extracted Genetic Variants

Gene:CDH2
Variant:p.T722I

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.T722I
c.2165C>T
Surrounding Variants
1 paper
NM_001792.5
p.G723C
c.2167G>T
2 papers
NM_001792.5
p.G723S
c.2167G>A
1 paper
NM_001792.5
p.I725V
c.2173A>G
1 paper
NM_001792.5
p.G719R
c.2155G>A
1 paper
NM_001792.5
p.A718V
c.2153C>T
1 paper
NM_001792.5
p.L729del1
c.2185_2186delCAG
1 paper
NM_001792.5
p.R714G
c.2140A>G
2 papers
NM_001792.5
p.D713H
c.2137G>C
1 paper
NM_001792.5
p.I733_I734del0
c.2197_2202del6
1 paper
NM_001792.5
p.L736I
c.2206C>A
1 paper
NM_001792.5
p.N706K
c.2118C>G
1 paper
NM_001792.5
p.N706K
c.2118C>A
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