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.V743A

c.2228T>C

Surrounding Variants

1 paper

NM_002590.4

p.V752I

c.2254G>A

1 paper

NM_002590.4

p.S730P

c.2188T>C

1 paper

NM_002590.4

p.T761M

c.2282C>T

1 paper

NM_002590.4

p.R782R

c.2346C>T

1 paper

NM_002590.4

p.R788Q

c.2363G>A

1 paper

NM_002590.4

p.R697C

c.2089C>T

1 paper

NM_002590.4

p.E806fs

c.2416_2417fs

1 paper

NM_002590.4

p.E806delFs

c.2417_2418delCT

1 paper

NM_002590.4

p.E807A

c.2420A>C

1 paper

NM_002590.4

p.A809S

c.2425G>T

1 paper

NM_002590.4

p.A809_R810insFs

c.2427_2428insTC

1 paper

NM_002590.4

p.R810fs

c.2428_2429fs