Varaico: Literature-Extracted Genetic Variants

Gene:CDH2
Variant:p.L56I

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.L56I
c.166C>A
Surrounding Variants
1 paper
NM_001792.5
p.L56delFs
c.167delA
3 papers
NM_001792.5
p.P54T
c.160C>A
1 paper
NM_001792.5
p.H50_E51delFs
c.148_151del4
1 paper
NM_001792.5
p.H50H
c.150T>C
1 paper
NM_001792.5
p.D48N
c.142G>A
1 paper
NM_001792.5
p.S46L
c.137C>T
1 paper
NM_001792.5
p.V44I
c.130G>A
1 paper
NM_001792.5
p.A43V
c.128C>T
1 paper
NM_001792.5
p.A43T
c.127G>A
1 paper
NM_001792.5
p.V40V
c.120T>A
1 paper
NM_001792.5
p.D39G
c.116A>G
1 paper
NM_001792.5
p.E38K
c.112G>A
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