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

Selected Variant

1 paper

NM_001173523.2

p.G12A

c.35G>C

Surrounding Variants

1 paper

NM_001173523.2

p.G12D

c.35G>A

2 papers

NM_001173523.2

p.G12V

c.35G>T

1 paper

NM_001173523.2

p.G12S

c.34G>A

1 paper

NM_001173523.2

p.G16C

c.46G>T

1 paper

NM_001173523.2

p.L25F

c.73C>T

1 paper

NM_001173523.2

p.Q32*

c.94C>T

1 paper

NM_001173523.2

p.R35Q

c.104G>A

1 paper

NM_001173523.2

p.E41K

c.121G>A

1 paper

NM_001173523.2

p.E41G

c.122A>G

1 paper

NM_001173523.2

p.A44D

c.131C>A

1 paper

NM_001173523.2

p.S67I

c.200G>T

1 paper

NM_001173523.2

p.E69D

c.207G>C