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.R690C

c.2068C>T

Surrounding Variants

1 paper

NM_004061.5

p.N687I

c.2060A>T

1 paper

NM_004061.5

p.E686D

c.2058G>T

1 paper

NM_004061.5

p.E686D

c.2058G>C

1 paper

NM_004061.5

p.K682N

c.2046A>T

1 paper

NM_004061.5

p.K682N

c.2046A>C

1 paper

NM_004061.5

p.L698fs

c.2092_2093fs

2 papers

NM_004061.5

p.P681T

c.2041C>A

1 paper

NM_004061.5

p.A677P

c.2029G>C

1 paper

NM_004061.5

p.R704R

c.2112A>G

3 papers

NM_004061.5

p.D674N

c.2020G>A

1 paper

NM_004061.5

p.P706T

c.2116C>A

1 paper

NM_004061.5

p.M707I

c.2121G>T