Varaico: Literature-Extracted Genetic Variants

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 493–590UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin 12

HGNC Alias Symbols

Br-cadherin; CDHB

Papers

RefSeq ID

Protein change

DNA change

1–12 of 152 variants

9 papers

NM_004061.5

p.V68M

c.202G>A

3 papers

NM_004061.5

p.D674N

c.2020G>A

2 papers

NM_004061.5

p.T21I

c.62C>T

2 papers

NM_004061.5

p.P25Q

c.74C>A

2 papers

NM_004061.5

p.I40V

c.118A>G

2 papers

NM_004061.5

p.F62fs

c.184_185fs

2 papers

NM_004061.5

p.F62delFs

c.186delA

2 papers

NM_004061.5

p.P190T

c.568C>A

2 papers

NM_004061.5

p.T370M

c.1109C>T

2 papers

NM_004061.5

p.V497M

c.1489G>A

2 papers

NM_004061.5

p.R559H

c.1676G>A

2 papers

NM_004061.5

p.C590S

c.1768T>A