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.R459C

c.1375C>T

Surrounding Variants

1 paper

NM_002590.4

p.T451I

c.1352C>T

1 paper

NM_002590.4

p.L448_V449del2

c.1342_1346del6

1 paper

NM_002590.4

p.R486R

c.1458T>A

2 papers

NM_002590.4

p.R499Q

c.1496G>A

1 paper

NM_002590.4

p.V411L

c.1231G>T

1 paper

NM_002590.4

p.V411L

c.1231G>C

1 paper

NM_002590.4

p.E508K

c.1522G>A

1 paper

NM_002590.4

p.G396_P402del7

c.1186_1205del21

1 paper

NM_002590.4

p.S399*

c.1196C>A

1 paper

NM_002590.4

p.R522_D525del4

c.1564_1574del12

1 paper

NM_002590.4

p.A388T

c.1162G>A

1 paper

NM_002590.4

p.G530D

c.1589G>A