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.I319F

c.955A>T

Surrounding Variants

1 paper

NM_001040429.3

p.I319T

c.956T>C

1 paper

NM_001040429.3

p.G315R

c.943G>A

1 paper

NM_001040429.3

p.G315R

c.943G>C

2 papers

NM_001040429.3

p.R324*

c.970C>T

1 paper

NM_001040429.3

p.P330H

c.989C>A

1 paper

NM_001040429.3

p.K306M

c.917A>T

1 paper

NM_001040429.3

p.I342L

c.1024A>C

1 paper

NM_001040429.3

p.V290M

c.868G>A

1 paper

NM_001040429.3

p.A348E

c.1043C>A

1 paper

NM_001040429.3

p.P349L

c.1046C>T

1 paper

NM_001040429.3

p.G352_V354del3

c.1054_1061del9

1 paper

NM_001040429.3

p.Y285*

c.855C>A