Varaico: Literature-Extracted Genetic Variants

Gene:CDH2
Variant:p.A30T

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
4 papers
NM_001792.5
p.A30T
c.88G>A
Surrounding Variants
1 paper
NM_001792.5
p.L31*
c.92T>A
1 paper
NM_001792.5
p.C32S
c.94T>A
1 paper
NM_001792.5
p.C32S
c.95G>C
1 paper
NM_001792.5
p.G27C
c.79G>T
1 paper
NM_001792.5
p.G35R
c.103G>C
1 paper
NM_001792.5
p.G35R
c.103G>A
2 papers
NM_001792.5
p.E24Q
c.70G>C
1 paper
NM_001792.5
p.E38K
c.112G>A
1 paper
NM_001792.5
p.A21T
c.61G>A
1 paper
NM_001792.5
p.D39G
c.116A>G
1 paper
NM_001792.5
p.V40V
c.120T>A
1 paper
NM_001792.5
p.A43T
c.127G>A
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