Varaico: Literature-Extracted Genetic Variants

Gene:CDH12
Variant:p.V63L

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 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.V63L
c.187G>T
Surrounding Variants
1 paper
NM_004061.5
p.V63L
c.187G>C
2 papers
NM_004061.5
p.F62delFs
c.186delA
2 papers
NM_004061.5
p.F62fs
c.184_185fs
9 papers
NM_004061.5
p.V68M
c.202G>A
1 paper
NM_004061.5
p.R54H
c.161G>A
1 paper
NM_004061.5
p.P72A
c.214C>G
1 paper
NM_004061.5
p.R51C
c.151C>T
1 paper
NM_004061.5
p.G44V
c.131G>T
1 paper
NM_004061.5
p.H41Y
c.121C>T
2 papers
NM_004061.5
p.I40V
c.118A>G
1 paper
NM_004061.5
p.N38D
c.112A>G
1 paper
NM_004061.5
p.R36delFs
c.106delT
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