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.S972*

c.2915C>A

Surrounding Variants

1 paper

NM_001173523.2

p.S972*

c.2915C>G

1 paper

NM_001173523.2

p.S974I

c.2921G>T

1 paper

NM_001173523.2

p.V967A

c.2900T>C

2 papers

NM_001173523.2

p.R979Q

c.2936G>A

1 paper

NM_001173523.2

p.P959Q

c.2876C>A

1 paper

NM_001173523.2

p.G985A

c.2954G>C

1 paper

NM_001173523.2

p.Q945K

c.2833C>A

1 paper

NM_001173523.2

p.S943fs

c.2827_2828fs

1 paper

NM_001173523.2

p.K942K

c.2826A>G

1 paper

NM_001173523.2

p.K942insFs

c.2826dupA

1 paper

NM_001173523.2

p.K938fs

c.2812_2813fs

1 paper

NM_001173523.2

p.D937H

c.2809G>C