Varaico: Literature-Extracted Genetic Variants

Gene:CDH12
Variant:p.D212V

CDH12

112 papers

RefSeq Summary

This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a prepropr...

Pfam Domains

Cadherinaa 59–151UCSCCadherin domain
Cadherinaa 165–260UCSCCadherin domain
Cadherinaa 274–376UCSCCadherin domain
Cadherinaa 389–480UCSCCadherin domain
Cadherinaa 389–480UCSCCadherin domain
Cadherinaa 493–590UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin 12

HGNC Alias Symbols

Br-cadherin; CDHB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004061.5
p.D212V
c.635A>T
Surrounding Variants
1 paper
NM_004061.5
p.K214fs
c.640_641fs
1 paper
NM_004061.5
p.Q204*
c.610C>T
1 paper
NM_004061.5
p.V199V
c.597T>G
1 paper
NM_004061.5
p.V198I
c.592G>A
1 paper
NM_004061.5
p.A196V
c.587C>T
2 papers
NM_004061.5
p.P190T
c.568C>A
1 paper
NM_004061.5
p.A184T
c.550G>A
1 paper
NM_004061.5
p.G176Splc
c.527-8103G>A
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