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

3 papers

NM_002590.4

p.T367A

c.1099A>G

Surrounding Variants

1 paper

NM_002590.4

p.A364insFs

c.1091dupC

1 paper

NM_002590.4

p.P352_I354del3

c.1054_1061del9

1 paper

NM_002590.4

p.G380G

c.1140G>T

1 paper

NM_002590.4

p.A388T

c.1162G>A

1 paper

NM_002590.4

p.R343H

c.1028G>A

1 paper

NM_002590.4

p.I341M

c.1023C>G

1 paper

NM_002590.4

p.A335V

c.1004C>T

1 paper

NM_002590.4

p.S399*

c.1196C>A

1 paper

NM_002590.4

p.G396_P402del7

c.1186_1205del21

1 paper

NM_002590.4

p.R325W

c.973C>T

1 paper

NM_002590.4

p.V411L

c.1231G>T

1 paper

NM_002590.4

p.V411L

c.1231G>C