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.A520D

c.1559C>A

Surrounding Variants

1 paper

NM_004061.5

p.Q522K

c.1564C>A

1 paper

NM_004061.5

p.S518L

c.1553C>T

1 paper

NM_004061.5

p.A513V

c.1538C>T

1 paper

NM_004061.5

p.A532V

c.1595C>T

1 paper

NM_004061.5

p.Q523_T539delFs

c.1569_1617del49

1 paper

NM_004061.5

p.R544I

c.1631G>T

1 paper

NM_004061.5

p.P503R

c.1508C>G

2 papers

NM_004061.5

p.V497M

c.1489G>A

1 paper

NM_004061.5

p.E494E

c.1482G>A

1 paper

NM_004061.5

p.Y493N

c.1477T>A

1 paper

NM_004061.5

p.I475T

c.1424T>C

1 paper

NM_004061.5

p.N466Y

c.1396A>T