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.E742K

c.2224G>A

Surrounding Variants

1 paper

NM_004061.5

p.A740V

c.2219C>T

1 paper

NM_004061.5

p.S746Y

c.2237C>A

1 paper

NM_004061.5

p.E749Q

c.2245G>C

1 paper

NM_004061.5

p.P732fs

c.2194_2195fs

1 paper

NM_004061.5

p.D727D

c.2181T>C

1 paper

NM_004061.5

p.D727N

c.2179G>A

1 paper

NM_004061.5

p.D762H

c.2284G>C

1 paper

NM_004061.5

p.R774H

c.2321G>A

1 paper

NM_004061.5

p.E708K

c.2122G>A

1 paper

NM_004061.5

p.M707I

c.2121G>T

1 paper

NM_004061.5

p.M707I

c.2121G>C

1 paper

NM_004061.5

p.M707I

c.2121G>A