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.K664N

c.1992G>T

Surrounding Variants

1 paper

NM_001040429.3

p.K664N

c.1992G>C

1 paper

NM_001040429.3

p.D667N

c.1999G>A

1 paper

NM_001040429.3

p.T672A

c.2014A>G

1 paper

NM_001040429.3

p.V655M

c.1963G>A

1 paper

NM_001040429.3

p.T647M

c.1940C>T

1 paper

NM_001040429.3

p.T647A

c.1939A>G

1 paper

NM_001040429.3

p.R646H

c.1937G>A

1 paper

NM_001040429.3

p.S683P

c.2047T>C

1 paper

NM_001040429.3

p.E644A

c.1931A>C

1 paper

NM_001040429.3

p.E690*

c.2068G>T

1 paper

NM_001040429.3

p.D703N

c.2107G>A

1 paper

NM_001040429.3

p.S620C

c.1858A>T