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.A630V

c.1889C>T

Surrounding Variants

1 paper

NM_001173523.2

p.K632Q

c.1894A>C

1 paper

NM_001173523.2

p.V618M

c.1852G>A

1 paper

NM_001173523.2

p.D613N

c.1837G>A

1 paper

NM_001173523.2

p.D590Y

c.1768G>T

1 paper

NM_001173523.2

p.A672G

c.2015C>G

1 paper

NM_001173523.2

p.E680K

c.2038G>A

1 paper

NM_001173523.2

p.N682S

c.2045A>G

1 paper

NM_001173523.2

p.R702W

c.2104C>T

1 paper

NM_001173523.2

p.V554L

c.1660G>C

1 paper

NM_001173523.2

p.V554L

c.1660G>T

1 paper

NM_001173523.2

p.V540V

c.1620G>A

1 paper

NM_001173523.2

p.G536S

c.1606G>A