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.L182fs

c.544_545fs

Surrounding Variants

1 paper

NM_001173523.2

p.L182delFs

c.545delT

1 paper

NM_001173523.2

p.P186S

c.556C>T

1 paper

NM_001173523.2

p.G187R

c.559G>A

1 paper

NM_001173523.2

p.Y162H

c.484T>C

1 paper

NM_001173523.2

p.G213S

c.637G>A

1 paper

NM_001173523.2

p.P146R

c.437C>G

1 paper

NM_001173523.2

p.S219*

c.656C>A

1 paper

NM_001173523.2

p.P144P

c.432G>T

1 paper

NM_001173523.2

p.T142A

c.424A>G

1 paper

NM_001173523.2

p.N139_P141ins1

c.415_423dup9

1 paper

NM_001173523.2

p.G233_G234delins

c.697_700delinsTAAC

1 paper

NM_001173523.2

p.G234R

c.700G>C