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

3 papers

NM_016580.4

p.S640N

c.1919G>A

Surrounding Variants

1 paper

NM_016580.4

p.G641G

c.1923A>G

1 paper

NM_016580.4

p.A630T

c.1888G>A

1 paper

NM_016580.4

p.T653M

c.1958C>T

1 paper

NM_016580.4

p.G654R

c.1960G>C

1 paper

NM_016580.4

p.G654R

c.1960G>A

1 paper

NM_016580.4

p.V622L

c.1864G>T

1 paper

NM_016580.4

p.V622L

c.1864G>C

1 paper

NM_016580.4

p.R614R

c.1842G>A

1 paper

NM_016580.4

p.R614W

c.1840C>T

2 papers

NM_016580.4

p.E670*

c.2008G>T

1 paper

NM_016580.4

p.T610A

c.1828A>G

1 paper

NM_016580.4

p.E674A

c.2021A>C