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.S321C

c.961A>T

Surrounding Variants

1 paper

NM_001173523.2

p.P323R

c.968C>G

1 paper

NM_001173523.2

p.T325N

c.974C>A

1 paper

NM_001173523.2

p.T325I

c.974C>T

1 paper

NM_001173523.2

p.E314G

c.941A>G

1 paper

NM_001173523.2

p.L328M

c.982C>A

1 paper

NM_001173523.2

p.E314K

c.940G>A

1 paper

NM_001173523.2

p.Q329*

c.985C>T

1 paper

NM_001173523.2

p.V337M

c.1009G>A

1 paper

NM_001173523.2

p.R356Q

c.1067G>A

1 paper

NM_001173523.2

p.D285H

c.853G>C

1 paper

NM_001173523.2

p.R359S

c.1075C>A

1 paper

NM_001173523.2

p.T277P

c.829A>C