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

2 papers

NM_001173523.2

p.H836H

c.2508C>T

Surrounding Variants

1 paper

NM_001173523.2

p.H836Q

c.2508C>A

1 paper

NM_001173523.2

p.H836Q

c.2508C>G

1 paper

NM_001173523.2

p.L857F

c.2571G>C

1 paper

NM_001173523.2

p.L857F

c.2571G>T

1 paper

NM_001173523.2

p.S802F

c.2405C>T

1 paper

NM_001173523.2

p.V800A

c.2399T>C

1 paper

NM_001173523.2

p.V884M

c.2650G>A

1 paper

NM_001173523.2

p.T890M

c.2669C>T

1 paper

NM_001173523.2

p.V766L

c.2296G>C

1 paper

NM_001173523.2

p.V766L

c.2296G>T

1 paper

NM_001173523.2

p.G915D

c.2744G>A

1 paper

NM_001173523.2

p.G915V

c.2744G>T