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

Selected Variant

1 paper

NM_004061.5

p.L608P

c.1823T>C

Surrounding Variants

1 paper

NM_004061.5

p.G611A

c.1832G>C

1 paper

NM_004061.5

p.G611E

c.1832G>A

1 paper

NM_004061.5

p.L612R

c.1835T>G

1 paper

NM_004061.5

p.C601Y

c.1802G>A

2 papers

NM_004061.5

p.C590S

c.1769G>C

2 papers

NM_004061.5

p.C590S

c.1768T>A

1 paper

NM_004061.5

p.Q579R

c.1736A>G

1 paper

NM_004061.5

p.Q579K

c.1735C>A

1 paper

NM_004061.5

p.L567F

c.1699C>T

2 papers

NM_004061.5

p.R559H

c.1676G>A

1 paper

NM_004061.5

p.T552N

c.1655C>A

1 paper

NM_004061.5

p.R639S

c.1917G>T