Varaico: Literature-Extracted Genetic Variants

PCDH8

87 papers

RefSeq Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specifi...

Pfam Domains

Cadherin_2aa 31–111UCSCCadherin-like

Cadherinaa 140–236UCSCCadherin domain

Cadherinaa 251–345UCSCCadherin domain

Cadherinaa 398–488UCSCCadherin domain

Cadherinaa 502–600UCSCCadherin domain

Cadherinaa 620–711UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin 8

HGNC Alias Symbols

PAPC; ARCADLIN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002590.4

p.G165G

c.495C>G

Surrounding Variants

1 paper

NM_002590.4

p.G168G

c.504G>C

1 paper

NM_002590.4

p.V172insFs

c.514dupG

1 paper

NM_002590.4

p.L174_A175delFs

c.522_525del4

1 paper

NM_002590.4

p.I154I

c.462C>A

1 paper

NM_002590.4

p.V150delFs

c.448_449delAC

1 paper

NM_002590.4

p.A148V

c.443C>T

1 paper

NM_002590.4

p.L185R

c.554T>G

1 paper

NM_002590.4

p.E146K

c.436G>A

1 paper

NM_002590.4

p.R188*

c.562C>T

1 paper

NM_002590.4

p.V142delFs

c.424delC

1 paper

NM_002590.4

p.Q139_P141ins1

c.415_423dup9

1 paper

NM_002590.4

p.R134_F135del2

c.400_404del6