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.V766L

c.2296G>C

Surrounding Variants

1 paper

NM_001173523.2

p.V766L

c.2296G>T

1 paper

NM_001173523.2

p.N736fs

c.2206_2207fs

1 paper

NM_001173523.2

p.N736_N738delFs

c.2207_2213del7

1 paper

NM_001173523.2

p.V800A

c.2399T>C

1 paper

NM_001173523.2

p.S802F

c.2405C>T

1 paper

NM_001173523.2

p.T725A

c.2173A>G

1 paper

NM_001173523.2

p.R702W

c.2104C>T

1 paper

NM_001173523.2

p.H836Q

c.2508C>A

1 paper

NM_001173523.2

p.H836Q

c.2508C>G

2 papers

NM_001173523.2

p.H836H

c.2508C>T

1 paper

NM_001173523.2

p.N682S

c.2045A>G

1 paper

NM_001173523.2

p.E680K

c.2038G>A