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.G448_S449del2

c.1342_1346del6

Surrounding Variants

1 paper

NM_001040429.3

p.A444V

c.1331C>T

1 paper

NM_001040429.3

p.L452F

c.1354C>T

1 paper

NM_001040429.3

p.E437V

c.1310A>T

1 paper

NM_001040429.3

p.F458L

c.1372T>C

1 paper

NM_001040429.3

p.F458L

c.1374C>A

1 paper

NM_001040429.3

p.F458L

c.1374C>G

1 paper

NM_001040429.3

p.L463Q

c.1388T>A

1 paper

NM_001040429.3

p.R428C

c.1282C>T

1 paper

NM_001040429.3

p.T426I

c.1277C>T

1 paper

NM_001040429.3

p.D419N

c.1255G>A

1 paper

NM_001040429.3

p.N417K

c.1251C>A

1 paper

NM_001040429.3

p.P411H

c.1232C>A