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

1–12 of 191 variants

3 papers

NM_001040429.3

p.G394R

c.1180G>C

3 papers

NM_001040429.3

p.R970H

c.2909G>A

3 papers

NM_001040429.3

p.E988K

c.2962G>A

3 papers

NM_001040429.3

p.R1006*

c.3016C>T

2 papers

NM_001040429.3

p.R203H

c.608G>A

2 papers

NM_001040429.3

p.V212M

c.634G>A

2 papers

NM_001040429.3

p.R324*

c.970C>T

2 papers

NM_001040429.3

p.P366L

c.1097C>T

2 papers

NM_001040429.3

p.G394R

c.1180G>A

2 papers

NM_001040429.3

p.G405R

c.1213G>A

2 papers

NM_001040429.3

p.G405R

c.1213G>C

2 papers

NM_001040429.3

p.V494A

c.1481T>C