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

1–12 of 133 variants

3 papers

NM_002590.4

p.T367A

c.1099A>G

3 papers

NM_002590.4

p.V743A

c.2228T>C

2 papers

NM_002590.4

p.V250M

c.748G>A

2 papers

NM_002590.4

p.R499Q

c.1496G>A

1 paper

NM_002590.4

p.W7R

c.19T>C

1 paper

NM_002590.4

p.W7R

c.19T>A

1 paper

NM_002590.4

p.L15M

c.43T>A

1 paper

NM_002590.4

p.L17F

c.49C>T

1 paper

NM_002590.4

p.Y34C

c.101A>G

1 paper

NM_002590.4

p.E39A

c.116A>C

1 paper

NM_002590.4

p.V45delFs

c.134_135delGA

1 paper

NM_002590.4

p.M55V

c.163A>G