Varaico: Literature-Extracted Genetic Variants

PCDH7

114 papers

RefSeq Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is ...

Pfam Domains

Cadherin_2aa 33–117UCSCCadherin-like

Cadherinaa 238–299UCSCCadherin domain

Cadherinaa 313–406UCSCCadherin domain

Cadherinaa 429–526UCSCCadherin domain

Cadherinaa 540–630UCSCCadherin domain

Cadherinaa 644–733UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin 7

HGNC Alias Symbols

BH-Pcdh; PPP1R120

Papers

RefSeq ID

Protein change

DNA change

1–12 of 155 variants

3 papers

NM_001173523.2

p.K1188N

c.3564G>C

3 papers

NM_001173523.2

p.K1188N

c.3564G>T

2 papers

NM_001173523.2

p.G12V

c.35G>T

2 papers

NM_001173523.2

p.V369I

c.1105G>A

2 papers

NM_001173523.2

p.R422H

c.1265G>A

2 papers

NM_001173523.2

p.H836H

c.2508C>T

2 papers

NM_001173523.2

p.F922L

c.2764T>C

2 papers

NM_001173523.2

p.F922L

c.2766T>A

2 papers

NM_001173523.2

p.F922L

c.2766T>G

2 papers

NM_001173523.2

p.R979Q

c.2936G>A

1 paper

NM_001173523.2

p.G12S

c.34G>A

1 paper

NM_001173523.2

p.G12D

c.35G>A