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

2 papers

NM_001040429.3

p.G405R

c.1213G>C

Surrounding Variants

2 papers

NM_001040429.3

p.G405R

c.1213G>A

1 paper

NM_001040429.3

p.L403R

c.1208T>G

1 paper

NM_001040429.3

p.P411H

c.1232C>A

1 paper

NM_001040429.3

p.G396W

c.1186G>T

2 papers

NM_001040429.3

p.G394R

c.1180G>A

3 papers

NM_001040429.3

p.G394R

c.1180G>C

1 paper

NM_001040429.3

p.N417K

c.1251C>A

1 paper

NM_001040429.3

p.L392_G393delFs

c.1176_1177delAG

1 paper

NM_001040429.3

p.L392fs

c.1174_1175fs

1 paper

NM_001040429.3

p.D419N

c.1255G>A

1 paper

NM_001040429.3

p.L387P

c.1160T>C

1 paper

NM_001040429.3

p.T426I

c.1277C>T