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.G177C

c.529G>T

Surrounding Variants

1 paper

NM_001040429.3

p.D174_D175delFs

c.522_525del4

1 paper

NM_001040429.3

p.S185Y

c.554C>A

1 paper

NM_001040429.3

p.F151S

c.452T>C

1 paper

NM_001040429.3

p.L153delFs

c.457delC

2 papers

NM_001040429.3

p.R203H

c.608G>A

1 paper

NM_001040429.3

p.R150delFs

c.448_449delCG

2 papers

NM_001040429.3

p.V212M

c.634G>A

1 paper

NM_001040429.3

p.T214S

c.640A>T

1 paper

NM_001040429.3

p.T214S

c.641C>G

1 paper

NM_001040429.3

p.A215G

c.644C>G

1 paper

NM_001040429.3

p.E138K

c.412G>A

1 paper

NM_001040429.3

p.L216Q

c.647T>A