Varaico: Literature-Extracted Genetic Variants

Gene:CDH2
Variant:p.T207N

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.T207N
c.620C>A
Surrounding Variants
1 paper
NM_001792.5
p.I209F
c.625A>T
2 papers
NM_001792.5
p.P205L
c.614C>T
1 paper
NM_001792.5
p.D203D
c.609C>T
1 paper
NM_001792.5
p.A202D
c.605C>A
1 paper
NM_001792.5
p.S216L
c.647C>T
2 papers
NM_001792.5
p.T198S
c.592A>T
1 paper
NM_001792.5
p.G217R
c.649G>C
1 paper
NM_001792.5
p.S196R
c.588T>A
1 paper
NM_001792.5
p.Q218*
c.652C>T
1 paper
NM_001792.5
p.S196T
c.587G>C
2 papers
NM_001792.5
p.S220L
c.659C>T
1 paper
NM_001792.5
p.S220S
c.660G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."