Varaico: Literature-Extracted Genetic Variants

PCDH12

131 papers

RefSeq Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane doma...

Pfam Domains

Cadherin_2aa 31–114UCSCCadherin-like

Cadherinaa 140–235UCSCCadherin domain

Cadherinaa 250–343UCSCCadherin domain

Cadherinaa 360–451UCSCCadherin domain

Cadherinaa 465–556UCSCCadherin domain

Cadherinaa 612–694UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin 12

HGNC Alias Name

VE-cadherin-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016580.4

p.D80E

c.240C>G

Surrounding Variants

1 paper

NM_016580.4

p.D80E

c.240C>A

1 paper

NM_016580.4

p.D80V

c.239A>T

1 paper

NM_016580.4

p.A74V

c.221C>T

1 paper

NM_016580.4

p.R91W

c.271C>T

1 paper

NM_016580.4

p.R91Q

c.272G>A

1 paper

NM_016580.4

p.R94*

c.280C>T

1 paper

NM_016580.4

p.R94Q

c.281G>A

1 paper

NM_016580.4

p.Q96delFs

c.287delT

1 paper

NM_016580.4

p.Q61*

c.181C>T

1 paper

NM_016580.4

p.Q61K

c.181C>A

1 paper

NM_016580.4

p.P103delFs

c.309delG

1 paper

NM_016580.4

p.C104fs

c.310_311fs