Varaico: Literature-Extracted Genetic Variants

Gene:CDH2
Variant:p.V117M

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.V117M
c.349G>A
Surrounding Variants
9 papers
NM_001792.5
p.A118T
c.352G>A
2 papers
NM_001792.5
p.E113K
c.337G>A
2 papers
NM_001792.5
p.T111T
c.333C>G
1 paper
NM_001792.5
p.L123L
c.369G>A
1 paper
NM_001792.5
p.E110K
c.328G>A
1 paper
NM_001792.5
p.K109T
c.326A>C
1 paper
NM_001792.5
p.A106V
c.317C>T
1 paper
NM_001792.5
p.L127F
c.381A>T
1 paper
NM_001792.5
p.L127F
c.381A>C
1 paper
NM_001792.5
p.A106T
c.316G>A
1 paper
NM_001792.5
p.E130*
c.388G>T
1 paper
NM_001792.5
p.E130K
c.388G>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."