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.S1222I

c.3665G>T

Surrounding Variants

1 paper

NM_001173523.2

p.P1229S

c.3685C>T

1 paper

NM_001173523.2

p.G1238G

c.3714G>A

1 paper

NM_001173523.2

p.E1239K

c.3715G>A

1 paper

NM_001173523.2

p.T1247N

c.3740C>A

1 paper

NM_001173523.2

p.M1197delFs

c.3591delG

1 paper

NM_001173523.2

p.L1189M

c.3565C>A

3 papers

NM_001173523.2

p.K1188N

c.3564G>C

3 papers

NM_001173523.2

p.K1188N

c.3564G>T

1 paper

NM_001173523.2

p.P1165L

c.3494C>T

1 paper

NM_001173523.2

p.W1158delFs

c.3473delG

1 paper

NM_001173523.2

p.S1154*

c.3461C>A

1 paper

NM_001173523.2

p.S1154*

c.3461C>G