Varaico: Literature-Extracted Genetic Variants

PCDH17

126 papers

RefSeq Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic ...

Pfam Domains

Cadherin_2aa 20–112UCSCCadherin-like

Cadherinaa 137–234UCSCCadherin domain

Cadherinaa 248–342UCSCCadherin domain

Cadherinaa 357–463UCSCCadherin domain

Cadherinaa 477–574UCSCCadherin domain

Cadherinaa 593–682UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin 17

HGNC Alias Symbols

PCDH68; PCH68

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001040429.3

p.R611C

c.1831C>T

Surrounding Variants

1 paper

NM_001040429.3

p.R611H

c.1832G>A

1 paper

NM_001040429.3

p.S620C

c.1858A>T

1 paper

NM_001040429.3

p.R599H

c.1796G>A

1 paper

NM_001040429.3

p.P598L

c.1793C>T

1 paper

NM_001040429.3

p.T587T

c.1761G>A

2 papers

NM_001040429.3

p.A580T

c.1738G>A

1 paper

NM_001040429.3

p.E644A

c.1931A>C

1 paper

NM_001040429.3

p.R646H

c.1937G>A

1 paper

NM_001040429.3

p.T647A

c.1939A>G

1 paper

NM_001040429.3

p.T647M

c.1940C>T

1 paper

NM_001040429.3

p.T568M

c.1703C>T

1 paper

NM_001040429.3

p.V655M

c.1963G>A