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.P1039S

c.3115C>T

Surrounding Variants

1 paper

NM_001040429.3

p.C1047S

c.3139T>A

1 paper

NM_001040429.3

p.C1047S

c.3140G>C

1 paper

NM_001040429.3

p.T1048A

c.3142A>G

1 paper

NM_001040429.3

p.R1023C

c.3067C>T

1 paper

NM_001040429.3

p.K1060*

c.3178A>T

1 paper

NM_001040429.3

p.K1060K

c.3180A>G

1 paper

NM_001040429.3

p.A1013S

c.3037G>T

3 papers

NM_001040429.3

p.R1006*

c.3016C>T

1 paper

NM_001040429.3

p.L1072M

c.3214T>A

1 paper

NM_001040429.3

p.L1072V

c.3214T>G

1 paper

NM_001040429.3

p.D1004D

c.3012C>T

1 paper

NM_001040429.3

p.D1004Y

c.3010G>T