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.S134_D135del2

c.400_404del6

Surrounding Variants

1 paper

NM_001040429.3

p.S131F

c.392C>T

1 paper

NM_001040429.3

p.E138K

c.412G>A

1 paper

NM_001040429.3

p.M117I

c.351G>A

1 paper

NM_001040429.3

p.M117I

c.351G>C

1 paper

NM_001040429.3

p.M117I

c.351G>T

1 paper

NM_001040429.3

p.I118del1

c.352_354delATC

1 paper

NM_001040429.3

p.R150delFs

c.448_449delCG

1 paper

NM_001040429.3

p.F151S

c.452T>C

1 paper

NM_001040429.3

p.L153delFs

c.457delC

1 paper

NM_001040429.3

p.A110P

c.328G>C

1 paper

NM_001040429.3

p.E107G

c.320A>G

1 paper

NM_001040429.3

p.R97C

c.289C>T