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.S490S

c.1470G>C

Surrounding Variants

1 paper

NM_001173523.2

p.V503M

c.1507G>A

1 paper

NM_001173523.2

p.T476S

c.1427C>G

1 paper

NM_001173523.2

p.T476S

c.1426A>T

1 paper

NM_001173523.2

p.P532L

c.1595C>T

1 paper

NM_001173523.2

p.Q446R

c.1337A>G

1 paper

NM_001173523.2

p.G536S

c.1606G>A

1 paper

NM_001173523.2

p.V445L

c.1333G>C

1 paper

NM_001173523.2

p.V445L

c.1333G>T

1 paper

NM_001173523.2

p.V540V

c.1620G>A

1 paper

NM_001173523.2

p.V554L

c.1660G>C

1 paper

NM_001173523.2

p.V554L

c.1660G>T

2 papers

NM_001173523.2

p.R422H

c.1265G>A