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.P835S

c.2503C>T

Surrounding Variants

1 paper

NM_002590.4

p.A837P

c.2509G>C

1 paper

NM_002590.4

p.A837delFs

c.2511delC

1 paper

NM_002590.4

p.G828D

c.2483G>A

1 paper

NM_002590.4

p.A843insFs

c.2528dupC

1 paper

NM_002590.4

p.A843fs

c.2527_2528fs

1 paper

NM_002590.4

p.G859R

c.2575G>C

1 paper

NM_002590.4

p.G859R

c.2575G>A

1 paper

NM_002590.4

p.R810fs

c.2428_2429fs

1 paper

NM_002590.4

p.A809_R810insFs

c.2427_2428insTC

1 paper

NM_002590.4

p.A809S

c.2425G>T

1 paper

NM_002590.4

p.E807A

c.2420A>C

1 paper

NM_002590.4

p.E806delFs

c.2417_2418delCT