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.G421W

c.1261G>T

Surrounding Variants

2 papers

NM_001173523.2

p.R422H

c.1265G>A

1 paper

NM_001173523.2

p.E408G

c.1223A>G

1 paper

NM_001173523.2

p.L403L

c.1209T>C

1 paper

NM_001173523.2

p.V401M

c.1201G>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.Q446R

c.1337A>G

1 paper

NM_001173523.2

p.K395E

c.1183A>G

1 paper

NM_001173523.2

p.R390R

c.1170C>G

1 paper

NM_001173523.2

p.D389A

c.1166A>C

1 paper

NM_001173523.2

p.R382S

c.1144C>A

1 paper

NM_001173523.2

p.R382C

c.1144C>T