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.L118del1

c.352_354delCAG

Surrounding Variants

1 paper

NM_002590.4

p.F111L

c.331T>C

1 paper

NM_002590.4

p.A132fs

c.394_395fs

1 paper

NM_002590.4

p.P133Q

c.398C>A

1 paper

NM_002590.4

p.A132_R134delFs

c.396_402del7

1 paper

NM_002590.4

p.R134_F135del2

c.400_404del6

1 paper

NM_002590.4

p.C96S

c.287G>C

1 paper

NM_002590.4

p.C96S

c.286T>A

1 paper

NM_002590.4

p.Q139_P141ins1

c.415_423dup9

1 paper

NM_002590.4

p.V142delFs

c.424delC

1 paper

NM_002590.4

p.R94P

c.281G>C

1 paper

NM_002590.4

p.E146K

c.436G>A

1 paper

NM_002590.4

p.A148V

c.443C>T