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.R697C

c.2089C>T

Surrounding Variants

1 paper

NM_002590.4

p.L673delFs

c.2019delG

1 paper

NM_002590.4

p.L672Q

c.2015T>A

1 paper

NM_002590.4

p.S730P

c.2188T>C

3 papers

NM_002590.4

p.V743A

c.2228T>C

1 paper

NM_002590.4

p.A650P

c.1948G>C

1 paper

NM_002590.4

p.E643Q

c.1927G>C

1 paper

NM_002590.4

p.V752I

c.2254G>A

1 paper

NM_002590.4

p.Q637R

c.1910A>G

1 paper

NM_002590.4

p.R635H

c.1904G>A

1 paper

NM_002590.4

p.T761M

c.2282C>T

1 paper

NM_002590.4

p.R626L

c.1877G>T

1 paper

NM_002590.4

p.R782R

c.2346C>T